A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593112



Internal ID16380521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197002559..197003542hg38UCSC Ensembl
Innerchr3:196729430..196730413hg19UCSC Ensembl
Innerchr3:198213827..198214810hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38984
hg19984
hg18984
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8855n54
Supporting Variantsnssv987040, nssv987043, nssv987041, nssv987039, nssv987042
Samples
Known GenesMFI2, MFI2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593112
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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