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dbVar

Database of genomic structural variation

nsv6847188

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:6,139

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: 193 SVs from 32 studies. See in: genome view

Submitted genomic30,619,497-30,625,635

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6847188	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	30,619,497	30,625,635
nsv6847188	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	30,477,014	30,483,152

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18555299	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
nssv18555299	Submitted genomic		NC_000008.11:g.306 19497_30625635del	GRCh38 (hg38)		NC_000008.11	Chr8	30,619,497	30,625,635
nssv18555299	Remapped	Perfect	NC_000008.10:g.304 77014_30483152del	GRCh37.p13	First Pass	NC_000008.10	Chr8	30,477,014	30,483,152

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)
nssv18555299	0.003	830	275912

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