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dbVar

Database of genomic structural variation

nsv5570970

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:96

Publication(s):Ebert et al. 2021

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: 276 SVs from 48 studies. See in: genome view

Submitted genomic131,247,350-131,247,445

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5570970	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	131,247,350	131,247,445
nsv5570970	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	132,004,923	132,005,018

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17109067	deletion	SAMN00007824	Sequencing	Sequence alignment	1,699

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17109067	Submitted genomic		NC_000002.12:g.131 247350_131247445de lG	GRCh38 (hg38)		NC_000002.12	Chr2	131,247,350	131,247,445
nssv17109067	Remapped	Perfect	NC_000002.11:g.132 004923_132005018de lG	GRCh37.p13	First Pass	NC_000002.11	Chr2	132,004,923	132,005,018

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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