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dbVar

Database of genomic structural variation

nsv5479183

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:111

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: 80 SVs from 17 studies. See in: genome view

Submitted genomic42,182,883-42,182,993

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5479183	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	42,182,883	42,182,993
nsv5479183	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	42,222,482	42,222,592

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16995217	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16995217	Submitted genomic		NC_000007.14:g.421 82883_42182993del	GRCh38 (hg38)		NC_000007.14	Chr7	42,182,883	42,182,993
nssv16995217	Remapped	Perfect	NC_000007.13:g.422 22482_42222592del	GRCh37.p13	First Pass	NC_000007.13	Chr7	42,222,482	42,222,592

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)
nssv16995217	<0.001	1	6404

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