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dbVar

Database of genomic structural variation

nsv5672895

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:128

Description:NC_000017.10:g.(?_78194005)_(78194132_?)del 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: 119 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):80,220,206-80,220,333

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5672895	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	80,220,206	80,220,333
nsv5672895	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	78,194,005	78,194,132

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172375	deletion	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	Pathogenic	ClinVar	RCV001380204.1, VCV001068595.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172375	Remapped	Perfect	NC_000017.11:g.(?_ 80220206)_(8022033 3_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	80,220,206	80,220,333
nssv17172375	Submitted genomic		NC_000017.10:g.(?_ 78194005)_(7819413 2_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	78,194,005	78,194,132

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
nssv17172375	GRCh37: NC_000017.10:g.(?_78194005)_(78194132_?)del	deletion	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	Pathogenic	ClinVar	RCV001380204.1, VCV001068595.1

No genotype data were submitted for this variant

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