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dbVar

Database of genomic structural variation

nsv5483413

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:5,303

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: 93 SVs from 24 studies. See in: genome view

Submitted genomic27,507,920-27,513,222

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5483413	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	27,507,920	27,513,222
nsv5483413	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	27,796,849	27,802,151

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17031860	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17031860	Submitted genomic		NC_000010.11:g.275 07920_27513222del	GRCh38 (hg38)		NC_000010.11	Chr10	27,507,920	27,513,222
nssv17031860	Remapped	Perfect	NC_000010.10:g.277 96849_27802151del	GRCh37.p13	First Pass	NC_000010.10	Chr10	27,796,849	27,802,151

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)
nssv17031860	<0.001	1	6404

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