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dbVar

Database of genomic structural variation

nsv5578640

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:345

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: 131 SVs from 30 studies. See in: genome view

Submitted genomic11,334,633-11,334,977

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5578640	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	11,334,633	11,334,977
nsv5578640	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	11,474,759	11,475,103

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17107563	deletion	NA24385	Sequencing	Sequence alignment	2,573

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17107563	Submitted genomic		NC_000002.12:g.113 34633_11334977delA	GRCh38 (hg38)		NC_000002.12	Chr2	11,334,633	11,334,977
nssv17107563	Remapped	Perfect	NC_000002.11:g.114 74759_11475103delA	GRCh37.p13	First Pass	NC_000002.11	Chr2	11,474,759	11,475,103

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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