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dbVar

Database of genomic structural variation

nsv6315379

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:90,868

Description:GRCh37/hg19 Xq26.2(chrX:132703748-132794615) AND Simpson-Golabi-Behmel syndrome type 1
Publication(s):Dome et al. 2003, Sajorda et al. 2006

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: 166 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):133,569,720-133,660,587

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6315379	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	133,569,720	133,660,587
nsv6315379	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	132,703,748	132,794,615

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976983	copy number loss	Multiple	Multiple	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1; Simpson-Golabi-Behmel Syndrome Type 1; Simpson-Golabi-Behmel syndrome; Simpson-Golabi-Behmel syndrome type 1	Pathogenic	ClinVar	RCV002280650.1, VCV001703564.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976983	Remapped	Perfect	NC_000023.11:g.(?_ 133569720)_(133660 587_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	133,569,720	133,660,587
nssv17976983	Submitted genomic		NC_000023.10:g.(?_ 132703748)_(132794 615_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	132,703,748	132,794,615

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
nssv17976983	GRCh37: NC_000023.10:g.(?_132703748)_(132794615_?)del	copy number loss	maternal	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1; Simpson-Golabi-Behmel Syndrome Type 1; Simpson-Golabi-Behmel syndrome; Simpson-Golabi-Behmel syndrome type 1	Pathogenic	ClinVar	RCV002280650.1, VCV001703564.1

No genotype data were submitted for this variant

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