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dbVar

Database of genomic structural variation

nsv5673115

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:5,245

Description:NC_000017.10:g.(?_3392519)_(3397763_?)del AND Spongy degeneration of central nervous system
Publication(s):ACOG Committee on Genetics et al. 2009, Gross et al. 2008, Matalon 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: 133 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):3,489,225-3,494,469

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673115	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	3,489,225	3,494,469
nsv5673115	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	3,392,519	3,397,763

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172740	deletion	Multiple	Multiple	CANAVAN DISEASE; Canavan Disease; Canavan disease; Spongy degeneration of central nervous system	Pathogenic	ClinVar	RCV001383989.2, VCV001071506.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172740	Remapped	Perfect	NC_000017.11:g.(?_ 3489225)_(3494469_ ?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	3,489,225	3,494,469
nssv17172740	Submitted genomic		NC_000017.10:g.(?_ 3392519)_(3397763_ ?)del	GRCh37 (hg19)		NC_000017.10	Chr17	3,392,519	3,397,763

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
nssv17172740	GRCh37: NC_000017.10:g.(?_3392519)_(3397763_?)del	deletion	germline	CANAVAN DISEASE; Canavan Disease; Canavan disease; Spongy degeneration of central nervous system	Pathogenic	ClinVar	RCV001383989.2, VCV001071506.2

No genotype data were submitted for this variant

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