A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547340



Internal ID15988063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:107859481..107862677hg38UCSC Ensembl
Innerchr1:108402103..108405299hg19UCSC Ensembl
Innerchr1:108203626..108206822hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383197
hg193197
hg183197
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv470n54
Supporting Variantsnssv720736
Samples
Known GenesVAV3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547340
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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