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dbVar

Database of genomic structural variation

nsv5596857

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:136

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: 102 SVs from 29 studies. See in: genome view

Submitted genomic117,056,122-117,056,257

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5596857	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	117,056,122	117,056,257
nsv5596857	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	117,493,927	117,494,062

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17077258	deletion	SAMN01096687	Sequencing	Sequence alignment	1,334

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17077258	Submitted genomic		NC_000012.12:g.117 056122_117056257de lG	GRCh38 (hg38)		NC_000012.12	Chr12	117,056,122	117,056,257
nssv17077258	Remapped	Perfect	NC_000012.11:g.117 493927_117494062de lG	GRCh37.p13	First Pass	NC_000012.11	Chr12	117,493,927	117,494,062

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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