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dbVar

Database of genomic structural variation

nsv5547941

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:106

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: 157 SVs from 28 studies. See in: genome view

Submitted genomic31,724,239-31,724,344

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5547941	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	31,724,239	31,724,344
nsv5547941	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	33,096,552	33,096,657

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17734662	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17734662	Submitted genomic		NC_000021.9:g.3172 4239_31724344dup	GRCh38 (hg38)		NC_000021.9	Chr21	31,724,239	31,724,344
nssv17734662	Remapped	Perfect	NC_000021.8:g.3309 6552_33096657dup	GRCh37.p13	First Pass	NC_000021.8	Chr21	33,096,552	33,096,657

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)
nssv17734662	0.002	12	6404

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