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dbVar

Database of genomic structural variation

nsv5474436

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:146

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: 78 SVs from 19 studies. See in: genome view

Submitted genomic43,128,820-43,128,965

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5474436	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	43,128,820	43,128,965
nsv5474436	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	43,168,419	43,168,564

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16996324	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16996324	Submitted genomic		NC_000007.14:g.431 28820_43128965del	GRCh38 (hg38)		NC_000007.14	Chr7	43,128,820	43,128,965
nssv16996324	Remapped	Perfect	NC_000007.13:g.431 68419_43168564del	GRCh37.p13	First Pass	NC_000007.13	Chr7	43,168,419	43,168,564

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)
nssv16996324	<0.001	2	6404

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