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dbVar

Database of genomic structural variation

nsv6289906

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:31,461

Description:NC_000011.10:g.108151767_108183227del 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: 168 SVs from 40 studies. See in: genome view

Submitted genomic108,151,766-108,183,226

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6289906	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	108,151,766	108,183,226
nsv6289906	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	108,022,493	108,053,953

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17955511	deletion	Multiple	Multiple	ATAXIA-TELANGIECTASIA; AT; Ataxia-Telangiectasia; Ataxia-telangiectasia; Ataxia-telangiectasia syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000856665.1, VCV000694625.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17955511	Submitted genomic		NC_000011.10:g.108 151766_108183226de l	GRCh38 (hg38)		NC_000011.10	Chr11	108,151,766	108,183,226
nssv17955511	Remapped	Perfect	NC_000011.9:g.1080 22493_108053953del	GRCh37.p13	First Pass	NC_000011.9	Chr11	108,022,493	108,053,953

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
nssv17955511	GRCh38: NC_000011.10:g.108151766_108183226del	deletion	maternal	ATAXIA-TELANGIECTASIA; AT; Ataxia-Telangiectasia; Ataxia-telangiectasia; Ataxia-telangiectasia syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000856665.1, VCV000694625.1

No genotype data were submitted for this variant

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