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dbVar

Database of genomic structural variation

nsv4210130

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:59

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: 26 SVs from 8 studies. See in: genome view

Remapped(Score: Perfect):56,258,436-56,258,494

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4210130	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	56,258,436	56,258,494
nsv4210130	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000012.11	Chr12	56,652,220	56,652,278

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv15811246	deletion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15811246	Remapped	Perfect	NC_000012.12:g.562 58436_56258494del	GRCh38.p12	First Pass	NC_000012.12	Chr12	56,258,436	56,258,494
nssv15811246	Submitted genomic		NC_000012.11:g.566 52220_56652278del	GRCh37.p13		NC_000012.11	Chr12	56,652,220	56,652,278

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)
nssv15811246	4.6e-005	1	21694

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