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dbVar

Database of genomic structural variation

nsv4227837

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:447

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: 85 SVs from 9 studies. See in: genome view

Remapped(Score: Perfect):48,300,319-48,300,765

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4227837	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	48,300,319	48,300,765
nsv4227837	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000013.10	Chr13	48,874,455	48,874,901

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv15816095	deletion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15816095	Remapped	Perfect	NC_000013.11:g.483 00319_48300765del	GRCh38.p12	First Pass	NC_000013.11	Chr13	48,300,319	48,300,765
nssv15816095	Submitted genomic		NC_000013.10:g.488 74455_48874901del	GRCh37.p13		NC_000013.10	Chr13	48,874,455	48,874,901

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)
nssv15816095	<0.001	11	21312

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