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dbVar

Database of genomic structural variation

nsv5674032

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:75,068

Description:NC_000007.13:g.(?_42187805)_(42262872_?)del AND multiple conditions
Publication(s):Biesecker et al. 2000, Biesecker et al. 2001, Scott et al. 2009

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: 208 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):42,148,206-42,223,273

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5674032	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	42,148,206	42,223,273
nsv5674032	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	42,187,805	42,262,872

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172655	deletion	Multiple	Multiple	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS; Greig Cephalopolysyndactyly Syndrome; Greig cephalopolysyndactyly syndrome; Greig cephalopolysyndactyly syndrome; PALLISTER-HALL SYNDROME; PHS; Pallister-Hall Syndrome; Pallister-Hall syndrome; Pallister-Hall syndrome	Pathogenic	ClinVar	RCV001382338.3, VCV001070264.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172655	Remapped	Perfect	NC_000007.14:g.(?_ 42148206)_(4222327 3_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	42,148,206	42,223,273
nssv17172655	Submitted genomic		NC_000007.13:g.(?_ 42187805)_(4226287 2_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	42,187,805	42,262,872

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
nssv17172655	GRCh37: NC_000007.13:g.(?_42187805)_(42262872_?)del	deletion	germline	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS; Greig Cephalopolysyndactyly Syndrome; Greig cephalopolysyndactyly syndrome; Greig cephalopolysyndactyly syndrome; PALLISTER-HALL SYNDROME; PHS; Pallister-Hall Syndrome; Pallister-Hall syndrome; Pallister-Hall syndrome	Pathogenic	ClinVar	RCV001382338.3, VCV001070264.3

No genotype data were submitted for this variant

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