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dbVar

Database of genomic structural variation

nsv6167440

Organism: Homo sapiens

Study:nstd214 (Naslavsky et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:78

Publication(s):Naslavsky et al. 2022

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: 137 SVs from 26 studies. See in: genome view

Submitted genomic89,273,153-89,273,230

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6167440	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	89,273,153	89,273,230
nsv6167440	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	89,738,836	89,738,913

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17866171	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17866171	Submitted genomic		NC_000001.11:g.892 73153_89273230del	GRCh38 (hg38)		NC_000001.11	Chr1	89,273,153	89,273,230
nssv17866171	Remapped	Perfect	NC_000001.10:g.897 38836_89738913del	GRCh37.p13	First Pass	NC_000001.10	Chr1	89,738,836	89,738,913

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)
nssv17866171	0.002	4	2338

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