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dbVar

Database of genomic structural variation

nsv4683508

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:13,021

Description:NC_000014.9:g.(?_74480264)_(74493284_?)del AND Niemann-Pick disease, type C2
Publication(s):Patterson et al. 2000

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

Remapped(Score: Perfect):74,480,264-74,493,284

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683508	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	74,480,264	74,493,284
nsv4683508	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	74,946,967	74,959,987

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214591	deletion	Multiple	Multiple	NIEMANN-PICK DISEASE, TYPE C2; NPC2; Niemann-Pick Disease Type C; Niemann-Pick disease type C; Niemann-Pick disease type C2	Pathogenic	ClinVar	RCV001031821.3, VCV000831251.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214591	Remapped	Perfect	NC_000014.9:g.(?_7 4480264)_(74493284 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	74,480,264	74,493,284
nssv16214591	Submitted genomic		NC_000014.8:g.(?_7 4946967)_(74959987 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	74,946,967	74,959,987

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
nssv16214591	GRCh37: NC_000014.8:g.(?_74946967)_(74959987_?)del	deletion	germline	NIEMANN-PICK DISEASE, TYPE C2; NPC2; Niemann-Pick Disease Type C; Niemann-Pick disease type C; Niemann-Pick disease type C2	Pathogenic	ClinVar	RCV001031821.3, VCV000831251.3

No genotype data were submitted for this variant

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