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dbVar

Database of genomic structural variation

nsv7094461

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:123

Description:NC_000014.8:g.(?_94187790)_(94187912_?)del AND Sleep-related hypermotor 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: 44 SVs from 15 studies. See in: genome view

Remapped(Score: Perfect):93,721,444-93,721,566

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094461	Remapped	Perfect	GRCh38.p12	Primary Assembly	Second Pass	NC_000014.9	Chr14	93,721,444	93,721,566
nsv7094461	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187601.1	Chr14\|NT_1 87601.1	836,006	836,128
nsv7094461	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	94,187,790	94,187,912

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790232	deletion	Multiple	Multiple	Epilepsy, nocturnal frontal lobe; Nocturnal frontal lobe epilepsy	Uncertain significance	ClinVar	RCV003113893.2, VCV002427563.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790232	Remapped	Perfect	NT_187601.1:g.(?_8 36006)_(836128_?)d el	GRCh38.p12	First Pass	NT_187601.1	Chr14\|NT_1 87601.1	836,006	836,128
nssv18790232	Remapped	Perfect	NC_000014.9:g.(?_9 3721444)_(93721566 _?)del	GRCh38.p12	Second Pass	NC_000014.9	Chr14	93,721,444	93,721,566
nssv18790232	Submitted genomic		NC_000014.8:g.(?_9 4187790)_(94187912 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	94,187,790	94,187,912

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
nssv18790232	GRCh37: NC_000014.8:g.(?_94187790)_(94187912_?)del	deletion	germline	Epilepsy, nocturnal frontal lobe; Nocturnal frontal lobe epilepsy	Uncertain significance	ClinVar	RCV003113893.2, VCV002427563.3

No genotype data were submitted for this variant

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