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dbVar

Database of genomic structural variation

nsv5496866

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:3,439

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

Submitted genomic59,457,406-59,460,844

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5496866	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	59,457,406	59,460,844
nsv5496866	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	59,924,124	59,927,562

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17695940	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17695940	Submitted genomic		NC_000014.9:g.5945 7406_59460844del	GRCh38 (hg38)		NC_000014.9	Chr14	59,457,406	59,460,844
nssv17695940	Remapped	Perfect	NC_000014.8:g.5992 4124_59927562del	GRCh37.p13	First Pass	NC_000014.8	Chr14	59,924,124	59,927,562

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)
nssv17695940	<0.001	2	6404

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