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dbVar

Database of genomic structural variation

nsv6315578

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:delins
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:16,993

Description:NC_000022.10:g.24992587_25009579delinsGCCTGTAA
TCCCA AND gamma-Glutamyltransferase deficiency
Publication(s):Darin et al. 2018

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: 257 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):24,596,620-24,613,612

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6315578	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	24,596,620	24,613,612
nsv6315578	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	24,992,587	25,009,579

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976746	delins	Multiple	Multiple	GLUTATHIONURIA; Gamma-glutamyl transpeptidase deficiency; Glutathionuria; gamma-Glutamyltransferase deficiency	Pathogenic	ClinVar	RCV000656520.2, VCV000545540.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17976746	Remapped	Perfect	NC_000022.11:g.245 96620_24613612deli ns?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,596,620	24,613,612
nssv17976746	Submitted genomic		NC_000022.10:g.249 92587_25009579deli ns?	GRCh37 (hg19)		NC_000022.10	Chr22	24,992,587	25,009,579

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
nssv17976746	GRCh37: NC_000022.10:g.24992587_25009579delins?	delins	germline	GLUTATHIONURIA; Gamma-glutamyl transpeptidase deficiency; Glutathionuria; gamma-Glutamyltransferase deficiency	Pathogenic	ClinVar	RCV000656520.2, VCV000545540.2

No genotype data were submitted for this variant

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