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dbVar

Database of genomic structural variation

nsv6752137

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:77,714

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: 508 SVs from 73 studies. See in: genome view

Submitted genomic164,870,625-164,948,338

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6752137	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	164,870,625	164,948,338
nsv6752137	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	165,791,777	165,869,490

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18685622	duplication	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
nssv18685622	Submitted genomic		NC_000004.12:g.164 870625_164948338du p	GRCh38 (hg38)		NC_000004.12	Chr4	164,870,625	164,948,338
nssv18685622	Remapped	Perfect	NC_000004.11:g.165 791777_165869490du p	GRCh37.p13	First Pass	NC_000004.11	Chr4	165,791,777	165,869,490

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)
nssv18685622	2.9e-05	8	269966

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