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dbVar

Database of genomic structural variation

nsv6991474

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:2,706

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: 86 SVs from 19 studies. See in: genome view

Submitted genomic65,435,853-65,438,558

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6991474	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	65,435,853	65,438,558
nsv6991474	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	65,469,756	65,472,461

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18401801	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
nssv18401801	Submitted genomic		NC_000016.10:g.654 35853_65438558del	GRCh38 (hg38)		NC_000016.10	Chr16	65,435,853	65,438,558
nssv18401801	Remapped	Perfect	NC_000016.9:g.6546 9756_65472461del	GRCh37.p13	First Pass	NC_000016.9	Chr16	65,469,756	65,472,461

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)
nssv18401801	1.1e-05	3	275968

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