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

dbVar

Database of genomic structural variation

nsv4681596

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:9,318

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: 157 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):121,772,557-121,781,874

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681596	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	121,772,557	121,781,874
nsv4681596	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	121,491,404	121,500,721

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213136	deletion	Multiple	Multiple	Nephronophthisis; Nephronophthisis; Nephronophthisis; Nephronophthisis	Pathogenic	ClinVar	RCV001031216.5, VCV000830596.5
nssv17172162	duplication	Multiple	Multiple	Nephronophthisis; Nephronophthisis; Nephronophthisis; Nephronophthisis	Likely pathogenic	ClinVar	RCV001377964.4, VCV001066853.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213136	Remapped	Perfect	NC_000003.12:g.(?_ 121772557)_(121781 874_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	121,772,557	121,781,874
nssv17172162	Remapped	Perfect	NC_000003.12:g.(?_ 121772557)_(121781 874_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	121,772,557	121,781,874
nssv16213136	Submitted genomic		NC_000003.11:g.(?_ 121491404)_(121500 721_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	121,491,404	121,500,721
nssv17172162	Submitted genomic		NC_000003.11:g.(?_ 121491404)_(121500 721_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	121,491,404	121,500,721

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
nssv16213136	GRCh37: NC_000003.11:g.(?_121491404)_(121500721_?)del	deletion	germline	Nephronophthisis; Nephronophthisis; Nephronophthisis; Nephronophthisis	Pathogenic	ClinVar	RCV001031216.5, VCV000830596.5
nssv17172162	GRCh37: NC_000003.11:g.(?_121491404)_(121500721_?)dup	duplication	germline	Nephronophthisis; Nephronophthisis; Nephronophthisis; Nephronophthisis	Likely pathogenic	ClinVar	RCV001377964.4, VCV001066853.4

No genotype data were submitted for this variant

You are here: NCBI