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dbVar

Database of genomic structural variation

nsv5673794

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:71,757

Description:NC_000007.13:g.(?_42116331)_(42188087_?)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: 152 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):42,076,732-42,148,488

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673794	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	42,076,732	42,148,488
nsv5673794	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	42,116,331	42,188,087

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171495	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	RCV001385078.5, VCV001072387.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171495	Remapped	Perfect	NC_000007.14:g.(?_ 42076732)_(4214848 8_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	42,076,732	42,148,488
nssv17171495	Submitted genomic		NC_000007.13:g.(?_ 42116331)_(4218808 7_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	42,116,331	42,188,087

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
nssv17171495	GRCh37: NC_000007.13:g.(?_42116331)_(42188087_?)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	RCV001385078.5, VCV001072387.5

No genotype data were submitted for this variant

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