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dbVar

Database of genomic structural variation

nsv7095368

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:59,273

Description:NC_000017.10:g.(?_78187951)_(78247223_?)dup AND Mucopolysaccharidosis, MPS-III-A
Publication(s):Wagner et al. 2019

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: 425 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):80,214,152-80,273,424

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095368	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	80,214,152	80,273,424
nsv7095368	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	78,187,951	78,247,223

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787183	duplication	Multiple	Multiple	MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A; Mucopolysaccharidosis Type III; Mucopolysaccharidosis type 3; Mucopolysaccharidosis, MPS-III-A; Sanfilippo syndrome type A; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003122166.2, VCV002422571.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787183	Remapped	Perfect	NC_000017.11:g.(?_ 80214152)_(8027342 4_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	80,214,152	80,273,424
nssv18787183	Submitted genomic		NC_000017.10:g.(?_ 78187951)_(7824722 3_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	78,187,951	78,247,223

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
nssv18787183	GRCh37: NC_000017.10:g.(?_78187951)_(78247223_?)dup	duplication	germline	MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A; Mucopolysaccharidosis Type III; Mucopolysaccharidosis type 3; Mucopolysaccharidosis, MPS-III-A; Sanfilippo syndrome type A; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003122166.2, VCV002422571.2

No genotype data were submitted for this variant

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