Product Details

Assay Reference Genome Location: Chr.14:23425636 on build GRCh38
Cytoband: 14q11.2
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 4625
Gene Symbol: MYH7
Gene Name: myosin, heavy chain 7, cardiac muscle, beta
Gene Aliases: CMD1S, CMH1, MPD1, MYHCB, SPMD, SPMM
Location: Chr.14:23412738-23435686 on build GRCh38
Assay Gene Location: Overlaps Intron 20 - Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
MYH7	NM_000257.3			NP_000248.2
	XM_017021340.1			XP_016876829.1
	AB209708.1			BAD92945.1
	AK307590.1
	AY518538.1			AAT44534.1
	BC112171.1			AAI12172.1
	BC112173.1			AAI12174.1
	EF560725.1
	EU747717.1
	M58018.1			AAA62830.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv974315	Chr14:23425338 - 23426796 on Build GRCh38	Duplication	MYH7
esv3584149	Chr14:23395407 - 23427942 on Build GRCh38	Gain	MYH6 MYH7 MHRT MIR208B

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