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dbVar

Database of genomic structural variation

nsv4681168

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:23,940

Description:NC_000011.10:g.(?_108248923)_(108272862_?)del AND Ataxia-telangiectasia syndrome
Publication(s):Bird et al. 1998, Gasser et al. 2009, Gatti et al. 1999, van de Warrenburg et al. 2014

Links to Other Resources

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

Remapped(Score: Perfect):108,248,923-108,272,862

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681168	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	108,248,923	108,272,862
nsv4681168	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	108,119,650	108,143,589

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214155	deletion	Multiple	Multiple	ATAXIA-TELANGIECTASIA; AT; Ataxia-Telangiectasia; Ataxia-telangiectasia; Ataxia-telangiectasia syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001032698.3, VCV000832184.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214155	Remapped	Perfect	NC_000011.10:g.(?_ 108248923)_(108272 862_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	108,248,923	108,272,862
nssv16214155	Submitted genomic		NC_000011.9:g.(?_1 08119650)_(1081435 89_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	108,119,650	108,143,589

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214155	GRCh37: NC_000011.9:g.(?_108119650)_(108143589_?)del	deletion	germline	ATAXIA-TELANGIECTASIA; AT; Ataxia-Telangiectasia; Ataxia-telangiectasia; Ataxia-telangiectasia syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001032698.3, VCV000832184.3

No genotype data were submitted for this variant

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