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dbVar

Database of genomic structural variation

nsv5483195

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:298

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: 235 SVs from 30 studies. See in: genome view

Submitted genomic15,474,543-15,474,840

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5483195	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	15,474,543	15,474,840
nsv5483195	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	15,474,541	15,474,838

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17020609	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17020609	Submitted genomic		NC_000009.12:g.154 74543_15474840del	GRCh38 (hg38)		NC_000009.12	Chr9	15,474,543	15,474,840
nssv17020609	Remapped	Perfect	NC_000009.11:g.154 74541_15474838del	GRCh37.p13	First Pass	NC_000009.11	Chr9	15,474,541	15,474,838

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)
nssv17020609	0.001	8	6400

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