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dbVar

Database of genomic structural variation

nsv5564479

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,640,265

Description:
See descriptions for individual calls in download files

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: 4886 SVs from 98 studies. See in: genome view

Remapped(Score: Perfect):126,614,450-128,254,714

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5564479	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	126,614,450	128,254,714
nsv5564479	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	129,376,729	131,016,993

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059513	deletion	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31; Epileptic encephalopathy, early infantile, 31; Lennox-Gastaut syndrome; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001364955.2, VCV001056169.3
nssv17171428	deletion	Multiple	Multiple	Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile	Pathogenic	ClinVar	RCV001383155.2, VCV001056169.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17059513	Remapped	Perfect	NC_000009.12:g.(?_ 126614450)_(128254 714_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	126,614,450	128,254,714
nssv17171428	Remapped	Perfect	NC_000009.12:g.(?_ 126614450)_(128254 714_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	126,614,450	128,254,714
nssv17059513	Submitted genomic		NC_000009.11:g.(?_ 129376729)_(131016 993_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	129,376,729	131,016,993
nssv17171428	Submitted genomic		NC_000009.11:g.(?_ 129376729)_(131016 993_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	129,376,729	131,016,993

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059513	GRCh37: NC_000009.11:g.(?_129376729)_(131016993_?)del	deletion	germline	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31; Epileptic encephalopathy, early infantile, 31; Lennox-Gastaut syndrome; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001364955.2, VCV001056169.3
nssv17171428	GRCh37: NC_000009.11:g.(?_129376729)_(131016993_?)del	deletion	germline	Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile	Pathogenic	ClinVar	RCV001383155.2, VCV001056169.3

No genotype data were submitted for this variant

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