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dbVar

Database of genomic structural variation

nsv5380972

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:2,416,233

Description:
See descriptions for individual calls in download files
Publication(s):Fahim et al. 2000, Kumaran et al. 2018

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: 5239 SVs from 96 studies. See in: genome view

Remapped(Score: Perfect):65,471,072-67,887,304

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5380972	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	65,471,072	67,887,304
nsv5380972	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	65,937,790	68,354,021

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867100	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001314756.1, VCV001015841.2
nssv16867178	duplication	Multiple	Multiple	LEBER CONGENITAL AMAUROSIS 13; LCA13; Leber congenital amaurosis 13	Uncertain significance	ClinVar	RCV001341311.1, VCV001015841.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867100	Remapped	Perfect	NC_000014.9:g.(?_6 5471072)_(67887304 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	65,471,072	67,887,304
nssv16867178	Remapped	Perfect	NC_000014.9:g.(?_6 5471072)_(67887304 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	65,471,072	67,887,304
nssv16867100	Submitted genomic		NC_000014.8:g.(?_6 5937790)_(68354021 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	65,937,790	68,354,021
nssv16867178	Submitted genomic		NC_000014.8:g.(?_6 5937790)_(68354021 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	65,937,790	68,354,021

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
nssv16867100	GRCh37: NC_000014.8:g.(?_65937790)_(68354021_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001314756.1, VCV001015841.2
nssv16867178	GRCh37: NC_000014.8:g.(?_65937790)_(68354021_?)dup	duplication	germline	LEBER CONGENITAL AMAUROSIS 13; LCA13; Leber congenital amaurosis 13	Uncertain significance	ClinVar	RCV001341311.1, VCV001015841.2

No genotype data were submitted for this variant

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