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dbVar

Database of genomic structural variation

nsv4683411

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:411,994

Description:NC_000003.12:g.(?_49121216)_(49533209_?)del AND multiple conditions

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: 1548 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):49,121,216-49,533,209

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683411	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	49,121,216	49,533,209
nsv4683411	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	49,158,649	49,570,642

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17173204	deletion	Multiple	Multiple	LAMB2-related infantile-onset nephrotic syndrome; NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5; Nephrotic syndrome, type 5, with or without ocular abnormalities; PIERSON SYNDROME; Pierson syndrome; Pierson syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001384888.7, VCV000833037.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17173204	Remapped	Perfect	NC_000003.12:g.(?_ 49121216)_(4953320 9_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	49,121,216	49,533,209
nssv17173204	Submitted genomic		NC_000003.11:g.(?_ 49158649)_(4957064 2_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	49,158,649	49,570,642

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
nssv17173204	GRCh37: NC_000003.11:g.(?_49158649)_(49570642_?)del	deletion	germline	LAMB2-related infantile-onset nephrotic syndrome; NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5; Nephrotic syndrome, type 5, with or without ocular abnormalities; PIERSON SYNDROME; Pierson syndrome; Pierson syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001384888.7, VCV000833037.5

No genotype data were submitted for this variant

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