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

dbVar

Database of genomic structural variation

nsv7095148

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:22,969

Description:NC_000017.10:g.(?_3379434)_(3402402_?)dup 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: 185 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):3,476,140-3,499,108

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095148	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	3,476,140	3,499,108
nsv7095148	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	3,379,434	3,402,402

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791043	duplication	Multiple	Multiple	CANAVAN DISEASE; Canavan Disease; Canavan disease; Spongy degeneration of central nervous system	Uncertain significance	ClinVar	RCV003119150.2, VCV002422204.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791043	Remapped	Perfect	NC_000017.11:g.(?_ 3476140)_(3499108_ ?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	3,476,140	3,499,108
nssv18791043	Submitted genomic		NC_000017.10:g.(?_ 3379434)_(3402402_ ?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	3,379,434	3,402,402

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
nssv18791043	GRCh37: NC_000017.10:g.(?_3379434)_(3402402_?)dup	duplication	germline	CANAVAN DISEASE; Canavan Disease; Canavan disease; Spongy degeneration of central nervous system	Uncertain significance	ClinVar	RCV003119150.2, VCV002422204.2

No genotype data were submitted for this variant

You are here: NCBI