A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547341



Internal ID15988064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:107859481..107862728hg38UCSC Ensembl
Innerchr1:108402103..108405350hg19UCSC Ensembl
Innerchr1:108203626..108206873hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383248
hg193248
hg183248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv470n54
Supporting Variantsnssv720738, nssv720739, nssv720740, nssv720737
Samples
Known GenesVAV3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547341
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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