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dbVar

Database of genomic structural variation

nsv6290002

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:delins
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:84,978

Description:NC_000008.10:g.19340642_19425619delinsA AND Skeletal dysplasia, mild, with joint laxity and advanced bone age
Publication(s):Mizumoto et al. 2020

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: 352 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):19,483,131-19,568,108

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6290002	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	19,483,131	19,568,108
nsv6290002	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	19,340,642	19,425,619

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17955491	delins	Multiple	Multiple	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA; Skeletal dysplasia, mild, with joint laxity and advanced bone age	Pathogenic	ClinVar	RCV001090037.1, VCV000870479.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17955491	Remapped	Perfect	NC_000008.11:g.194 83131_19568108deli ns?	GRCh38.p12	First Pass	NC_000008.11	Chr8	19,483,131	19,568,108
nssv17955491	Submitted genomic		NC_000008.10:g.193 40642_19425619deli ns?	GRCh37 (hg19)		NC_000008.10	Chr8	19,340,642	19,425,619

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
nssv17955491	GRCh37: NC_000008.10:g.19340642_19425619delins?	delins	germline	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA; Skeletal dysplasia, mild, with joint laxity and advanced bone age	Pathogenic	ClinVar	RCV001090037.1, VCV000870479.1

No genotype data were submitted for this variant

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