Product Details

Assay Reference Genome Location: Chr.19:18786470 on build GRCh38
Cytoband: 19p13.11
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 1311
Gene Symbol: COMP
Gene Name: cartilage oligomeric matrix protein
Gene Aliases: EDM1, EPD1, MED, PSACH, THBS5, TSP5
Location: Chr.19:18782773-18791305 on build GRCh38
Assay Gene Location: Within Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
COMP	NM_000095.2			NP_000086.2
	AB086984.1			BAC53888.1
	AK074508.1			BAC11031.1
	AK223216.1			BAD96936.1
	AK290595.1
	AK296586.1
	AK297798.1
	AK297814.1
	BC110847.1			AAI10848.1
	BC125092.1
	L32137.1			AAA57253.1

Target Copy Number Variation Details

DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3643845	Chr19:18786208 - 18791888 on Build GRCh38	Loss	COMP
nsv1151217	Chr19:18627369 - 19284914 on Build GRCh38	Deletion	SUGP2 LOC102724360 RFXANK UPF1 BORCS8 KLHL26 CERS1 DDX49 NCAN HAPLN4 SUGP1 GDF1 NR2C2AP CRTC1 BORCS8-MEF2B TMEM161A SLC25A42 COPE MEF2B ARMC6 TM6SF2 HOMER3 COMP
nsv952422	Chr19:18606691 - 18807891 on Build GRCh38	Deletion	CRTC1 KLHL26 TMEM59L CRLF1 COMP
nsv833777	Chr19:18765126 - 18920267 on Build GRCh38	Loss	GDF1 UPF1 CRTC1 CERS1 COPE DDX49 COMP

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