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dbVar

Database of genomic structural variation

nsv7096248

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:249,154

Description:NC_000002.11:g.(?_232952187)_(233201340_?)del AND Perlman syndrome
Publication(s):Dome et al. 2003

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: 465 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):232,087,477-232,336,630

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096248	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	232,087,477	232,336,630
nsv7096248	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	232,952,187	233,201,340

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790041	deletion	Multiple	Multiple	PERLMAN SYNDROME; PRLMNS; Perlman syndrome; Renal hamartomas nephroblastomatosis and fetal gigantism	Pathogenic	ClinVar	RCV003113696.2, VCV002427367.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790041	Remapped	Perfect	NC_000002.12:g.(?_ 232087477)_(232336 630_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	232,087,477	232,336,630
nssv18790041	Submitted genomic		NC_000002.11:g.(?_ 232952187)_(233201 340_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	232,952,187	233,201,340

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
nssv18790041	GRCh37: NC_000002.11:g.(?_232952187)_(233201340_?)del	deletion	germline	PERLMAN SYNDROME; PRLMNS; Perlman syndrome; Renal hamartomas nephroblastomatosis and fetal gigantism	Pathogenic	ClinVar	RCV003113696.2, VCV002427367.2

No genotype data were submitted for this variant

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