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dbVar

Database of genomic structural variation

nsv5517859

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:103

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: 112 SVs from 24 studies. See in: genome view

Submitted genomic4,651,438-4,651,540

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5517859	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	4,651,438	4,651,540
nsv5517859	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	4,651,450	4,651,552

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17720744	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17720744	Submitted genomic		NC_000019.10:g.465 1438_4651540del	GRCh38 (hg38)		NC_000019.10	Chr19	4,651,438	4,651,540
nssv17720744	Remapped	Perfect	NC_000019.9:g.4651 450_4651552del	GRCh37.p13	First Pass	NC_000019.9	Chr19	4,651,450	4,651,552

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)
nssv17720744	0.003	18	6402

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