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dbVar

Database of genomic structural variation

nsv4070141

Organism: Homo sapiens

Study:nstd166 (gnomAD Structural Variants)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:182

Publication(s):gnomAD_Structural_Variants

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: 38 SVs from 7 studies. See in: genome view

Remapped(Score: Perfect):185,296,062-185,296,243

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4070141	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	185,296,062	185,296,243
nsv4070141	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000001.10	Chr1	185,265,194	185,265,375

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv15857585	deletion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15857585	Remapped	Perfect	NC_000001.11:g.185 296062_185296243de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	185,296,062	185,296,243
nssv15857585	Submitted genomic		NC_000001.10:g.185 265194_185265375de l	GRCh37.p13		NC_000001.10	Chr1	185,265,194	185,265,375

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)
nssv15857585	4.6e-005	1	21694

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