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dbVar

Database of genomic structural variation

nsv6953459

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:70

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: 228 SVs from 30 studies. See in: genome view

Submitted genomic113,529,321-113,529,390

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6953459	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	113,529,321	113,529,390
nsv6953459	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	114,183,636	114,183,705

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18376226	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
nssv18376226	Submitted genomic		NC_000013.11:g.113 529321_113529390de l	GRCh38 (hg38)		NC_000013.11	Chr13	113,529,321	113,529,390
nssv18376226	Remapped	Perfect	NC_000013.10:g.114 183636_114183705de l	GRCh37.p13	First Pass	NC_000013.10	Chr13	114,183,636	114,183,705

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)
nssv18376226	0.006	1564	253724

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