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dbVar

Database of genomic structural variation

nsv7097160

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:145,913

Description:NC_000005.9:g.(?_78135159)_(78281071_?)dup AND Mucopolysaccharidosis type 6
Publication(s):Wood et al. 2012

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: 556 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):78,839,336-78,985,248

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097160	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	78,839,336	78,985,248
nsv7097160	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	78,135,159	78,281,071

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791033	duplication	Multiple	Multiple	MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6; Mucopolysaccharidosis type 6; Mucopolysaccharidosis type VI	Uncertain significance	ClinVar	RCV003119139.2, VCV002422193.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791033	Remapped	Perfect	NC_000005.10:g.(?_ 78839336)_(7898524 8_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	78,839,336	78,985,248
nssv18791033	Submitted genomic		NC_000005.9:g.(?_7 8135159)_(78281071 _?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	78,135,159	78,281,071

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
nssv18791033	GRCh37: NC_000005.9:g.(?_78135159)_(78281071_?)dup	duplication	germline	MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6; Mucopolysaccharidosis type 6; Mucopolysaccharidosis type VI	Uncertain significance	ClinVar	RCV003119139.2, VCV002422193.4

No genotype data were submitted for this variant

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