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dbVar

Database of genomic structural variation

nsv6312977

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:64,151

Description:NC_000023.10:g.(?_18582577)_(18646727_?)del AND multiple conditions

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: 171 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):18,564,457-18,628,607

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312977	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	18,564,457	18,628,607
nsv6312977	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	18,582,577	18,646,727

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973103	deletion	Multiple	Multiple	Angelman syndrome-like; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 2; Infantile spasms syndrome	Pathogenic	ClinVar	RCV002000156.3, VCV001453159.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17973103	Remapped	Perfect	NC_000023.11:g.(?_ 18564457)_(1862860 7_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	18,564,457	18,628,607
nssv17973103	Submitted genomic		NC_000023.10:g.(?_ 18582577)_(1864672 7_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	18,582,577	18,646,727

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
nssv17973103	GRCh37: NC_000023.10:g.(?_18582577)_(18646727_?)del	deletion	germline	Angelman syndrome-like; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 2; Infantile spasms syndrome	Pathogenic	ClinVar	RCV002000156.3, VCV001453159.4

No genotype data were submitted for this variant

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