Product Details

Assay Reference Genome Location: Chr.19:18784908 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: Overlaps Intron 16 - Exon 16

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

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