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dbVar

Database of genomic structural variation

nsv5512786

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop 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:20,440

Publication(s):Byrska-Bishop 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: 216 SVs from 54 studies. See in: genome view

Submitted genomic27,934,133-27,954,572

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5512786	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	27,934,133	27,954,572
nsv5512786	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	28,508,270	28,528,709

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17686444	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17686444	Submitted genomic		NC_000013.11:g.279 34133_27954572dup	GRCh38 (hg38)		NC_000013.11	Chr13	27,934,133	27,954,572
nssv17686444	Remapped	Perfect	NC_000013.10:g.285 08270_28528709dup	GRCh37.p13	First Pass	NC_000013.10	Chr13	28,508,270	28,528,709

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)
nssv17686444	0.001	7	6404

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