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dbVar

Database of genomic structural variation

nsv5526743

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: 87 SVs from 16 studies. See in: genome view

Submitted genomic4,959,990-4,960,135

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5526743	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	4,959,990	4,960,135
nsv5526743	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	4,960,001	4,960,146

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17720790	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17720790	Submitted genomic		NC_000019.10:g.495 9990_4960135dup	GRCh38 (hg38)		NC_000019.10	Chr19	4,959,990	4,960,135
nssv17720790	Remapped	Perfect	NC_000019.9:g.4960 001_4960146dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	4,960,001	4,960,146

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)
nssv17720790	<0.001	1	6404

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