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dbVar

Database of genomic structural variation

nsv7093696

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:8,674

Description:NC_000011.9:g.(?_6404342)_(6413015_?)del AND multiple conditions
Publication(s):ACOG Committee on Genetics et al. 2009, Gross et al. 2008, Wasserstein et al. 2006

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: 78 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):6,383,112-6,391,785

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093696	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	6,383,112	6,391,785
nsv7093696	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	6,404,342	6,413,015

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789372	deletion	Multiple	Multiple	Acid Sphingomyelinase Deficiency; NIEMANN-PICK DISEASE, TYPE A; NIEMANN-PICK DISEASE, TYPE B; Niemann-Pick disease type A; Niemann-Pick disease type B; Niemann-Pick disease, type A; Niemann-Pick disease, type B; Server error < EMBL-EBI	Pathogenic	ClinVar	RCV003111415.2, VCV002423273.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789372	Remapped	Perfect	NC_000011.10:g.(?_ 6383112)_(6391785_ ?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	6,383,112	6,391,785
nssv18789372	Submitted genomic		NC_000011.9:g.(?_6 404342)_(6413015_? )del	GRCh37 (hg19)		NC_000011.9	Chr11	6,404,342	6,413,015

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
nssv18789372	GRCh37: NC_000011.9:g.(?_6404342)_(6413015_?)del	deletion	germline	Acid Sphingomyelinase Deficiency; NIEMANN-PICK DISEASE, TYPE A; NIEMANN-PICK DISEASE, TYPE B; Niemann-Pick disease type A; Niemann-Pick disease type B; Niemann-Pick disease, type A; Niemann-Pick disease, type B; Server error < EMBL-EBI	Pathogenic	ClinVar	RCV003111415.2, VCV002423273.3

No genotype data were submitted for this variant

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