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dbVar

Database of genomic structural variation

nsv5459038

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:157

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: 75 SVs from 18 studies. See in: genome view

Submitted genomic42,119,538-42,119,694

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5459038	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	42,119,538	42,119,694
nsv5459038	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	42,121,555	42,121,711

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16949612	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16949612	Submitted genomic		NC_000004.12:g.421 19538_42119694del	GRCh38 (hg38)		NC_000004.12	Chr4	42,119,538	42,119,694
nssv16949612	Remapped	Perfect	NC_000004.11:g.421 21555_42121711del	GRCh37.p13	First Pass	NC_000004.11	Chr4	42,121,555	42,121,711

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)
nssv16949612	<0.001	2	6404

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