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dbVar

Database of genomic structural variation

nsv6164985

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:292

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: 358 SVs from 46 studies. See in: genome view

Submitted genomic1,054,155-1,054,446

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6164985	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	1,054,155	1,054,446
nsv6164985	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	1,047,943	1,048,234

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17871788	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17871788	Submitted genomic		NC_000004.12:g.105 4155_1054446del	GRCh38 (hg38)		NC_000004.12	Chr4	1,054,155	1,054,446
nssv17871788	Remapped	Perfect	NC_000004.11:g.104 7943_1048234del	GRCh37.p13	First Pass	NC_000004.11	Chr4	1,047,943	1,048,234

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)
nssv17871788	<0.001	1	2272

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