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dbVar

Database of genomic structural variation

nsv5564428

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:72,804

Description:
See descriptions for individual calls in download files
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: 200 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):232,014,928-232,087,731

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5564428	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	232,014,928	232,087,731
nsv5564428	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	232,879,638	232,952,441

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059325	duplication	Multiple	Multiple	PERLMAN SYNDROME; PRLMNS; Perlman syndrome; Renal hamartomas nephroblastomatosis and fetal gigantism	Uncertain significance	ClinVar	RCV001360850.2, VCV001052629.2
nssv17172761	deletion	Multiple	Multiple	PERLMAN SYNDROME; PRLMNS; Perlman syndrome; Renal hamartomas nephroblastomatosis and fetal gigantism	Pathogenic	ClinVar	RCV001384019.2, VCV001071531.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17059325	Remapped	Perfect	NC_000002.12:g.(?_ 232014928)_(232087 731_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	232,014,928	232,087,731
nssv17172761	Remapped	Perfect	NC_000002.12:g.(?_ 232014928)_(232087 731_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	232,014,928	232,087,731
nssv17059325	Submitted genomic		NC_000002.11:g.(?_ 232879638)_(232952 441_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	232,879,638	232,952,441
nssv17172761	Submitted genomic		NC_000002.11:g.(?_ 232879638)_(232952 441_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	232,879,638	232,952,441

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
nssv17059325	GRCh37: NC_000002.11:g.(?_232879638)_(232952441_?)dup	duplication	germline	PERLMAN SYNDROME; PRLMNS; Perlman syndrome; Renal hamartomas nephroblastomatosis and fetal gigantism	Uncertain significance	ClinVar	RCV001360850.2, VCV001052629.2
nssv17172761	GRCh37: NC_000002.11:g.(?_232879638)_(232952441_?)del	deletion	germline	PERLMAN SYNDROME; PRLMNS; Perlman syndrome; Renal hamartomas nephroblastomatosis and fetal gigantism	Pathogenic	ClinVar	RCV001384019.2, VCV001071531.2

No genotype data were submitted for this variant

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