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dbVar

Database of genomic structural variation

nsv5590589

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:4,379

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

Submitted genomic93,430,964-93,435,342

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5590589	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	93,430,964	93,435,342
nsv5590589	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	93,824,740	93,829,118

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17088132	deletion	HG03065	Sequencing	Sequence alignment	3,836

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17088132	Submitted genomic		NC_000012.12:g.934 30964_93435342delC	GRCh38 (hg38)		NC_000012.12	Chr12	93,430,964	93,435,342
nssv17088132	Remapped	Perfect	NC_000012.11:g.938 24740_93829118delC	GRCh37.p13	First Pass	NC_000012.11	Chr12	93,824,740	93,829,118

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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