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dbVar

Database of genomic structural variation

nsv6311531

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex substitution
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:2

Description:
Single allele AND Mucopolysaccharidosis, MPS-IV-B
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: 50 SVs from 12 studies. See in: genome view

Remapped(Score: Perfect):33,058,553-33,058,554

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6311531	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	33,058,553	33,058,554
nsv6311531	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	33,100,045	33,100,046

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970391	complex substitution	Multiple	Multiple	GLB1-Related Disorders; MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B; Mucopolysaccharidosis type 4; Mucopolysaccharidosis, MPS-IV-B	Likely pathogenic	ClinVar	RCV001849900.1, VCV001344904.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17970391	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	33,058,553	33,058,554
nssv17970391	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	33,100,045	33,100,046

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970391	complex substitution	germline	GLB1-Related Disorders; MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B; Mucopolysaccharidosis type 4; Mucopolysaccharidosis, MPS-IV-B	Likely pathogenic	ClinVar	RCV001849900.1, VCV001344904.1

No genotype data were submitted for this variant

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