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dbVar

Database of genomic structural variation

nsv7098660

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:119

Description:NC_000023.10:g.(?_41428901)_(41429019_?)del AND Intellectual disability, CASK-related, X-linked
Publication(s):Moog et al. 2013

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: 113 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):41,569,648-41,569,766

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098660	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	41,569,648	41,569,766
nsv7098660	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	41,428,901	41,429,019

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789661	deletion	Multiple	Multiple	CASK-Related Disorders; Mental retardation, CASK-related, X-linked	Pathogenic	ClinVar	RCV003113306.2, VCV002424724.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789661	Remapped	Perfect	NC_000023.11:g.(?_ 41569648)_(4156976 6_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	41,569,648	41,569,766
nssv18789661	Submitted genomic		NC_000023.10:g.(?_ 41428901)_(4142901 9_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	41,428,901	41,429,019

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
nssv18789661	GRCh37: NC_000023.10:g.(?_41428901)_(41429019_?)del	deletion	germline	CASK-Related Disorders; Mental retardation, CASK-related, X-linked	Pathogenic	ClinVar	RCV003113306.2, VCV002424724.2

No genotype data were submitted for this variant

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