A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564300



Internal ID16351709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35137839..35140774hg38UCSC Ensembl
Innerchr14:35607045..35609980hg19UCSC Ensembl
Innerchr14:34676796..34679731hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg382936
hg192936
hg182936
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3626n54
Supporting Variantsnssv825688, nssv825689, nssv825687
Samples
Known GenesKIAA0391
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564300
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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