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dbVar

Database of genomic structural variation

nsv4682517

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:95

Description:NC_000003.12:g.(?_33097001)_(33097095_?)del AND multiple conditions
Publication(s):Regier et al. 2013

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: 56 SVs from 16 studies. See in: genome view

Remapped(Score: Perfect):33,097,001-33,097,095

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682517	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	33,097,001	33,097,095
nsv4682517	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	33,138,493	33,138,587

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16212299	deletion	Multiple	Multiple	GLB1-Related Disorders; GM1 gangliosidosis; MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B; Mucopolysaccharidosis type 4; Mucopolysaccharidosis, MPS-IV-B	Pathogenic	ClinVar	RCV001033042.4, VCV000832564.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16212299	Remapped	Perfect	NC_000003.12:g.(?_ 33097001)_(3309709 5_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	33,097,001	33,097,095
nssv16212299	Submitted genomic		NC_000003.11:g.(?_ 33138493)_(3313858 7_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	33,138,493	33,138,587

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
nssv16212299	GRCh37: NC_000003.11:g.(?_33138493)_(33138587_?)del	deletion	germline	GLB1-Related Disorders; GM1 gangliosidosis; MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B; Mucopolysaccharidosis type 4; Mucopolysaccharidosis, MPS-IV-B	Pathogenic	ClinVar	RCV001033042.4, VCV000832564.4

No genotype data were submitted for this variant

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