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dbVar

Database of genomic structural variation

nsv4716350

Organism: Homo sapiens

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

Variant Calls:1
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: 470 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):1,054,949-1,054,950

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4716350	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	1,054,949	1,054,950
nsv4716350	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	1,048,737	1,048,738

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv16239809	deletion	M478	Sequencing	Paired-end mapping	1	4,557

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16239809	Remapped	Perfect	NC_000004.12:g.105 4949_1054950del	GRCh38.p12	First Pass	NC_000004.12	Chr4	1,054,949	1,054,950
nssv16239809	Submitted genomic		NC_000004.11:g.104 8737_1048738del	GRCh37 (hg19)		NC_000004.11	Chr4	1,048,737	1,048,738

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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