A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565223



Internal ID16005946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77829212..77830511hg38UCSC Ensembl
Innerchr14:78295555..78296854hg19UCSC Ensembl
Innerchr14:77365308..77366607hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381300
hg191300
hg181300
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv829580, nssv829581
Samples
Known GenesADCK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565223
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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