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dbVar

Database of genomic structural variation

nsv5381699

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:740,411

Description:NC_000023.10:g.(?_46696536)_(47436910_?)dup AND Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

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: 1537 SVs from 72 studies. See in: genome view

Remapped(Score: Good):46,837,101-47,577,511

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381699	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	46,837,101	47,577,511
nsv5381699	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	46,696,536	47,436,910

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866470	duplication	Multiple	Multiple	EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS; Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders; X-linked epilepsy-learning disabilities-behavior disorders syndrome	Uncertain significance	ClinVar	RCV001309817.4, VCV001011944.7

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866470	Remapped	Good	NC_000023.11:g.(?_ 46837101)_(4757751 1_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	46,837,101	47,577,511
nssv16866470	Submitted genomic		NC_000023.10:g.(?_ 46696536)_(4743691 0_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	46,696,536	47,436,910

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
nssv16866470	GRCh37: NC_000023.10:g.(?_46696536)_(47436910_?)dup	duplication	germline	EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS; Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders; X-linked epilepsy-learning disabilities-behavior disorders syndrome	Uncertain significance	ClinVar	RCV001309817.4, VCV001011944.7

No genotype data were submitted for this variant

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