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dbVar

Database of genomic structural variation

nsv4578249

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,452

Description:NC_000005.9:g.149505067_149505080delins[g.1495
02629_149502780dup] AND Imatinib response
Publication(s):de la Fuente et al. 2014

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: 58 SVs from 12 studies. See in: genome view

Remapped(Score: Perfect):150,123,066-150,125,517

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv4578249	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	150,123,066	150,125,517
nsv4578249	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	149,502,629	149,505,080

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16091661	complex substitution	Multiple	Multiple	Imatinib response	drug response	ClinVar	RCV000853070.1, VCV000691863.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv16091661	Remapped	Perfect	GRCh38.p12	First Pass	NC_000005.10	Chr5	150,123,066	150,125,517
nssv16091661	Submitted genomic		GRCh37 (hg19)		NC_000005.9	Chr5	149,502,629	149,505,080

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16091661	complex substitution	see ClinVar for details	Imatinib response	drug response	ClinVar	RCV000853070.1, VCV000691863.2

No genotype data were submitted for this variant

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