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dbVar

Database of genomic structural variation

nsv4712561

Organism: Homo sapiens

Study:nstd195 (Mwapagha et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:2

Publication(s):Mwapagha 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: 112 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):61,340,313-61,340,314

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4712561	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	61,340,313	61,340,314
nsv4712561	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	61,107,785	61,107,786

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv16233043	deletion	M456	Sequencing	Paired-end mapping	1	4,735
nssv16239190	deletion	M478	Sequencing	Paired-end mapping	1	4,557
nssv16250264	deletion	B381	Sequencing	Paired-end mapping	1	5,743

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16233043	Remapped	Perfect	NC_000011.10:g.613 40313_61340314del	GRCh38.p12	First Pass	NC_000011.10	Chr11	61,340,313	61,340,314
nssv16239190	Remapped	Perfect	NC_000011.10:g.613 40313_61340314del	GRCh38.p12	First Pass	NC_000011.10	Chr11	61,340,313	61,340,314
nssv16250264	Remapped	Perfect	NC_000011.10:g.613 40313_61340314del	GRCh38.p12	First Pass	NC_000011.10	Chr11	61,340,313	61,340,314
nssv16233043	Submitted genomic		NC_000011.9:g.6110 7785_61107786del	GRCh37 (hg19)		NC_000011.9	Chr11	61,107,785	61,107,786
nssv16239190	Submitted genomic		NC_000011.9:g.6110 7785_61107786del	GRCh37 (hg19)		NC_000011.9	Chr11	61,107,785	61,107,786
nssv16250264	Submitted genomic		NC_000011.9:g.6110 7785_61107786del	GRCh37 (hg19)		NC_000011.9	Chr11	61,107,785	61,107,786

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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