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dbVar

Database of genomic structural variation

nsv6155402

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:103

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

Submitted genomic70,840,052-70,840,154

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6155402	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	70,840,052	70,840,154
nsv6155402	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	71,705,769	71,705,871

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17888486	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17888486	Submitted genomic		NC_000004.12:g.708 40052_70840154del	GRCh38 (hg38)		NC_000004.12	Chr4	70,840,052	70,840,154
nssv17888486	Remapped	Perfect	NC_000004.11:g.717 05769_71705871del	GRCh37.p13	First Pass	NC_000004.11	Chr4	71,705,769	71,705,871

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)
nssv17888486	<0.001	1	2342

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