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dbVar

Database of genomic structural variation

nsv5380998

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:1,529,861

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: 9749 SVs from 115 studies. See in: genome view

Remapped(Score: Perfect):574,055-2,103,915

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5380998	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	574,055	2,103,915
nsv5380998	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	624,055	2,153,916

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867101	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	RCV001316565.1, VCV001017417.2
nssv16867214	duplication	Multiple	Multiple	Epilepsy; Seizure; Seizure Disorders	Uncertain significance	ClinVar	RCV001344085.1, VCV001017417.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867101	Remapped	Perfect	NC_000016.10:g.(?_ 574055)_(2103915_? )dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	574,055	2,103,915
nssv16867214	Remapped	Perfect	NC_000016.10:g.(?_ 574055)_(2103915_? )dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	574,055	2,103,915
nssv16867101	Submitted genomic		NC_000016.9:g.(?_6 24055)_(2153916_?) dup	GRCh37 (hg19)		NC_000016.9	Chr16	624,055	2,153,916
nssv16867214	Submitted genomic		NC_000016.9:g.(?_6 24055)_(2153916_?) dup	GRCh37 (hg19)		NC_000016.9	Chr16	624,055	2,153,916

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
nssv16867101	GRCh37: NC_000016.9:g.(?_624055)_(2153916_?)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	RCV001316565.1, VCV001017417.2
nssv16867214	GRCh37: NC_000016.9:g.(?_624055)_(2153916_?)dup	duplication	germline	Epilepsy; Seizure; Seizure Disorders	Uncertain significance	ClinVar	RCV001344085.1, VCV001017417.2

No genotype data were submitted for this variant

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