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

dbVar

Database of genomic structural variation

nsv7093918

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:1,209,514

Description:
See descriptions for individual calls in download files
Publication(s):Stokman et al. 2016

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: 3234 SVs from 86 studies. See in: genome view

Remapped(Score: Perfect):116,790,128-117,999,641

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093918	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	116,790,128	117,999,641
nsv7093918	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	116,660,844	117,870,356

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788723	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003109683.2, VCV002426021.2
nssv18791310	deletion	Multiple	Multiple	NEPHRONOPHTHISIS 15; NPHP15; Nephronophthisis; Nephronophthisis 15; Senior-Loken syndrome	Pathogenic	ClinVar	RCV003119459.2, VCV002426021.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788723	Remapped	Perfect	NC_000011.10:g.(?_ 116790128)_(117999 641_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	116,790,128	117,999,641
nssv18791310	Remapped	Perfect	NC_000011.10:g.(?_ 116790128)_(117999 641_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	116,790,128	117,999,641
nssv18788723	Submitted genomic		NC_000011.9:g.(?_1 16660844)_(1178703 56_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	116,660,844	117,870,356
nssv18791310	Submitted genomic		NC_000011.9:g.(?_1 16660844)_(1178703 56_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	116,660,844	117,870,356

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788723	GRCh37: NC_000011.9:g.(?_116660844)_(117870356_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV003109683.2, VCV002426021.2
nssv18791310	GRCh37: NC_000011.9:g.(?_116660844)_(117870356_?)del	deletion	germline	NEPHRONOPHTHISIS 15; NPHP15; Nephronophthisis; Nephronophthisis 15; Senior-Loken syndrome	Pathogenic	ClinVar	RCV003119459.2, VCV002426021.2

No genotype data were submitted for this variant

You are here: NCBI