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dbVar

Database of genomic structural variation

nsv4454316

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:481,121

Description:
NC_000002.11:g.165492423_165973543dup AND Epilepsy

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: 1236 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):164,635,913-165,117,033

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4454316	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	164,635,913	165,117,033
nsv4454316	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	165,492,423	165,973,543

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15755185	duplication	Multiple	Multiple	Epilepsy; Seizure; Seizure Disorders	Uncertain significance	ClinVar	RCV000787424.2, VCV000635918.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15755185	Remapped	Perfect	NC_000002.12:g.164 635913_165117033du p	GRCh38.p12	First Pass	NC_000002.12	Chr2	164,635,913	165,117,033
nssv15755185	Submitted genomic		NC_000002.11:g.165 492423_165973543du p	GRCh37 (hg19)		NC_000002.11	Chr2	165,492,423	165,973,543

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
nssv15755185	GRCh37: NC_000002.11:g.165492423_165973543dup	duplication	germline	Epilepsy; Seizure; Seizure Disorders	Uncertain significance	ClinVar	RCV000787424.2, VCV000635918.2

No genotype data were submitted for this variant

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