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dbVar

Database of genomic structural variation

nsv7095026

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:2,106,068

Description:
See descriptions for individual calls in download files
Publication(s):Parisi et al. 2003, 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: 4615 SVs from 89 studies. See in: genome view

Remapped(Score: Perfect):49,491,275-51,597,342

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095026	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	49,491,275	51,597,342
nsv7095026	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	49,525,186	51,631,253

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786642	deletion	Multiple	Multiple	Joubert syndrome with oculorenal defect; NEPHRONOPHTHISIS 14; NPHP14; Nephronophthisis 14	Uncertain significance	ClinVar	RCV003119486.2, VCV002426048.2
nssv18786643	duplication	Multiple	Multiple	Joubert syndrome with oculorenal defect; NEPHRONOPHTHISIS 14; NPHP14; Nephronophthisis 14	Uncertain significance	ClinVar	RCV003119487.2, VCV002426049.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18786642	Remapped	Perfect	NC_000016.10:g.(?_ 49491275)_(5159734 2_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	49,491,275	51,597,342
nssv18786643	Remapped	Perfect	NC_000016.10:g.(?_ 49491275)_(5159734 2_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	49,491,275	51,597,342
nssv18786642	Submitted genomic		NC_000016.9:g.(?_4 9525186)_(51631253 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	49,525,186	51,631,253
nssv18786643	Submitted genomic		NC_000016.9:g.(?_4 9525186)_(51631253 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	49,525,186	51,631,253

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
nssv18786642	GRCh37: NC_000016.9:g.(?_49525186)_(51631253_?)del	deletion	germline	Joubert syndrome with oculorenal defect; NEPHRONOPHTHISIS 14; NPHP14; Nephronophthisis 14	Uncertain significance	ClinVar	RCV003119486.2, VCV002426048.2
nssv18786643	GRCh37: NC_000016.9:g.(?_49525186)_(51631253_?)dup	duplication	germline	Joubert syndrome with oculorenal defect; NEPHRONOPHTHISIS 14; NPHP14; Nephronophthisis 14	Uncertain significance	ClinVar	RCV003119487.2, VCV002426049.2

No genotype data were submitted for this variant

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