Product Details

Assay Reference Genome Location: Chr.19:18785515 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 14 - Intron 15

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

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