Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5672589

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:1,305

Description:NC_000015.9:g.(?_72637767)_(72639071_?)del AND Tay-Sachs disease
Publication(s):ACOG Committee on Genetics et al. 2009, Gross et al. 2008, Kaback et al. 1999

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: 68 SVs from 17 studies. See in: genome view

Remapped(Score: Perfect):72,345,426-72,346,730

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5672589	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	72,345,426	72,346,730
nsv5672589	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	72,637,767	72,639,071

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172301	deletion	Multiple	Multiple	Hexosaminidase A Deficiency; TAY-SACHS DISEASE; TSD; Tay-Sachs disease; Tay-Sachs disease	Likely pathogenic	ClinVar	RCV001379366.1, VCV001067962.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172301	Remapped	Perfect	NC_000015.10:g.(?_ 72345426)_(7234673 0_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	72,345,426	72,346,730
nssv17172301	Submitted genomic		NC_000015.9:g.(?_7 2637767)_(72639071 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	72,637,767	72,639,071

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
nssv17172301	GRCh37: NC_000015.9:g.(?_72637767)_(72639071_?)del	deletion	germline	Hexosaminidase A Deficiency; TAY-SACHS DISEASE; TSD; Tay-Sachs disease; Tay-Sachs disease	Likely pathogenic	ClinVar	RCV001379366.1, VCV001067962.1

No genotype data were submitted for this variant

You are here: NCBI