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dbVar

Database of genomic structural variation

nsv6821657

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:42,000

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: 375 SVs from 54 studies. See in: genome view

Submitted genomic142,575,901-142,617,900

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6821657	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	142,575,901	142,617,900
nsv6821657	Remapped	Good	GRCh37.p13	PATCHES	Second Pass	NW_003571040.1	Chr7\|NW_00 3571040.1	759,685	801,634

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18540478	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
nssv18540478	Submitted genomic		NC_000007.14:g.142 575901_142617900de l	GRCh38 (hg38)		NC_000007.14	Chr7	142,575,901	142,617,900
nssv18540478	Remapped	Good	NW_003571040.1:g.7 59685_801634del	GRCh37.p13	Second Pass	NW_003571040.1	Chr7\|NW_00 3571040.1	759,685	801,634

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)
nssv18540478	0.002	457	252894

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