Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5380991

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:22,390

Description:NC_000016.9:g.(?_1248605)_(1270994_?)dup 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: 452 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):1,198,605-1,220,994

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5380991	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	1,198,605	1,220,994
nsv5380991	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	1,248,605	1,270,994

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866935	duplication	Multiple	Multiple	EPILEPSY, IDIOPATHIC GENERALIZED; EIG; Epilepsy, idiopathic generalized; HYPERALDOSTERONISM, FAMILIAL, TYPE IV; HALD4; Hyperaldosteronism, familial, type IV; Idiopathic generalized epilepsy	Uncertain significance	ClinVar	RCV001323936.1, VCV001023830.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866935	Remapped	Perfect	NC_000016.10:g.(?_ 1198605)_(1220994_ ?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	1,198,605	1,220,994
nssv16866935	Submitted genomic		NC_000016.9:g.(?_1 248605)_(1270994_? )dup	GRCh37 (hg19)		NC_000016.9	Chr16	1,248,605	1,270,994

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
nssv16866935	GRCh37: NC_000016.9:g.(?_1248605)_(1270994_?)dup	duplication	germline	EPILEPSY, IDIOPATHIC GENERALIZED; EIG; Epilepsy, idiopathic generalized; HYPERALDOSTERONISM, FAMILIAL, TYPE IV; HALD4; Hyperaldosteronism, familial, type IV; Idiopathic generalized epilepsy	Uncertain significance	ClinVar	RCV001323936.1, VCV001023830.1

No genotype data were submitted for this variant

You are here: NCBI