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

dbVar

Database of genomic structural variation

nsv5673614

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:194

Description:NC_000002.11:g.(?_233028159)_(233028352_?)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: 69 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):232,163,449-232,163,642

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673614	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	232,163,449	232,163,642
nsv5673614	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	233,028,159	233,028,352

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172760	deletion	Multiple	Multiple	PERLMAN SYNDROME; PRLMNS; Perlman syndrome; Renal hamartomas nephroblastomatosis and fetal gigantism	Pathogenic	ClinVar	RCV001384018.2, VCV001071530.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172760	Remapped	Perfect	NC_000002.12:g.(?_ 232163449)_(232163 642_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	232,163,449	232,163,642
nssv17172760	Submitted genomic		NC_000002.11:g.(?_ 233028159)_(233028 352_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	233,028,159	233,028,352

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
nssv17172760	GRCh37: NC_000002.11:g.(?_233028159)_(233028352_?)del	deletion	germline	PERLMAN SYNDROME; PRLMNS; Perlman syndrome; Renal hamartomas nephroblastomatosis and fetal gigantism	Pathogenic	ClinVar	RCV001384018.2, VCV001071530.2

No genotype data were submitted for this variant

You are here: NCBI