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dbVar

Database of genomic structural variation

nsv4217060

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:864

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: 40 SVs from 3 studies. See in: genome view

Remapped(Score: Perfect):27,622,009-27,622,872

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4217060	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	27,622,009	27,622,872
nsv4217060	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000013.10	Chr13	28,196,146	28,197,009

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv15813023	deletion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15813023	Remapped	Perfect	NC_000013.11:g.276 22009_27622872del	GRCh38.p12	First Pass	NC_000013.11	Chr13	27,622,009	27,622,872
nssv15813023	Submitted genomic		NC_000013.10:g.281 96146_28197009del	GRCh37.p13		NC_000013.10	Chr13	28,196,146	28,197,009

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)
nssv15813023	4.6e-005	1	21694

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