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dbVar

Database of genomic structural variation

nsv6309178

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:65,863

Description:NC_000011.9:g.(?_108098352)_(108164214_?)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: 210 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):108,227,625-108,293,487

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309178	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	108,227,625	108,293,487
nsv6309178	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	108,098,352	108,164,214

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973831	deletion	Multiple	Multiple	ATAXIA-TELANGIECTASIA; AT; Ataxia-Telangiectasia; Ataxia-telangiectasia; Ataxia-telangiectasia syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV002039678.2, VCV001350347.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17973831	Remapped	Perfect	NC_000011.10:g.(?_ 108227625)_(108293 487_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	108,227,625	108,293,487
nssv17973831	Submitted genomic		NC_000011.9:g.(?_1 08098352)_(1081642 14_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	108,098,352	108,164,214

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
nssv17973831	GRCh37: NC_000011.9:g.(?_108098352)_(108164214_?)del	deletion	germline	ATAXIA-TELANGIECTASIA; AT; Ataxia-Telangiectasia; Ataxia-telangiectasia; Ataxia-telangiectasia syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV002039678.2, VCV001350347.2

No genotype data were submitted for this variant

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