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dbVar

Database of genomic structural variation

nsv6137734

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:92,965

Description:NC_000023.11:g.68119248_68212212dup AND X-linked intellectual disability-cerebellar hypoplasia syndrome

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: 242 SVs from 34 studies. See in: genome view

Submitted genomic68,119,248-68,212,212

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6137734	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	68,119,248	68,212,212
nsv6137734	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	67,339,090	67,432,054

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17683512	duplication	Multiple	Multiple	MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE; Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance; X-linked intellectual disability-cerebellar hypoplasia syndrome	Pathogenic	ClinVar	RCV001644550.1, VCV001251919.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17683512	Submitted genomic		NC_000023.11:g.681 19248_68212212dup	GRCh38 (hg38)		NC_000023.11	ChrX	68,119,248	68,212,212
nssv17683512	Remapped	Perfect	NC_000023.10:g.673 39090_67432054dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	67,339,090	67,432,054

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	Copy number
nssv17683512	GRCh38: NC_000023.11:g.68119248_68212212dup	duplication	germline	MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE; Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance; X-linked intellectual disability-cerebellar hypoplasia syndrome	Pathogenic	ClinVar	RCV001644550.1, VCV001251919.1	1

No genotype data were submitted for this variant

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