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dbVar

Database of genomic structural variation

nsv6314687

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:23,407

Description:
See descriptions for individual calls in download files

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: 189 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):3,476,001-3,499,407

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6314687	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	3,476,001	3,499,407
nsv6314687	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	3,379,295	3,402,701

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976184	duplication	Multiple	Multiple	not specified	Uncertain significance	ClinVar	RCV002222966.1, VCV001677108.1
nssv17976630	deletion	Multiple	Multiple	Canavan Disease, Familial Form	Pathogenic	ClinVar	RCV002271734.1, VCV001698457.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976184	Remapped	Perfect	NC_000017.11:g.(?_ 3476001)_(3499407_ ?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	3,476,001	3,499,407
nssv17976630	Remapped	Perfect	NC_000017.11:g.(?_ 3476001)_(3499407_ ?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	3,476,001	3,499,407
nssv17976184	Submitted genomic		NC_000017.10:g.(?_ 3379295)_(3402701_ ?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	3,379,295	3,402,701
nssv17976630	Submitted genomic		NC_000017.10:g.(?_ 3379295)_(3402701_ ?)del	GRCh37 (hg19)		NC_000017.10	Chr17	3,379,295	3,402,701

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
nssv17976184	GRCh37: NC_000017.10:g.(?_3379295)_(3402701_?)dup	duplication	germline	not specified	Uncertain significance	ClinVar	RCV002222966.1, VCV001677108.1
nssv17976630	GRCh37: NC_000017.10:g.(?_3379295)_(3402701_?)del	deletion	germline	Canavan Disease, Familial Form	Pathogenic	ClinVar	RCV002271734.1, VCV001698457.1

No genotype data were submitted for this variant

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