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dbVar

Database of genomic structural variation

nsv6827413

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:520,229

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: 1661 SVs from 83 studies. See in: genome view

Submitted genomic125,695,563-126,215,791

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6827413	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	125,695,563	126,215,791
nsv6827413	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	125,335,617	125,855,845

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18536189	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
nssv18536189	Submitted genomic		NC_000007.14:g.125 695563_126215791de l	GRCh38 (hg38)		NC_000007.14	Chr7	125,695,563	126,215,791
nssv18536189	Remapped	Perfect	NC_000007.13:g.125 335617_125855845de l	GRCh37.p13	First Pass	NC_000007.13	Chr7	125,335,617	125,855,845

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)
nssv18536189	4e-06	1	276002

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