A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564293



Internal ID16351702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35136810..35145113hg38UCSC Ensembl
Innerchr14:35606016..35614319hg19UCSC Ensembl
Innerchr14:34675767..34684070hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg388304
hg198304
hg188304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3625n54
Supporting Variantsnssv825679, nssv825678, nssv825680
Samples
Known GenesKIAA0391
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564293
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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