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dbVar

Database of genomic structural variation

nsv6831463

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:493,300

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 2555 SVs from 116 studies. See in: genome view

Submitted genomic76,512,501-77,005,800

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6831463	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	76,512,501	77,005,800
nsv6831463	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	76,141,818	76,635,117

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18545361	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18545361	Submitted genomic		NC_000007.14:g.765 12501_77005800del	GRCh38 (hg38)		NC_000007.14	Chr7	76,512,501	77,005,800
nssv18545361	Remapped	Perfect	NC_000007.13:g.761 41818_76635117del	GRCh37.p13	First Pass	NC_000007.13	Chr7	76,141,818	76,635,117

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18545361	0.001	336	250184

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