A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564727



Internal ID16352136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:45300155..45438789hg38UCSC Ensembl
Innerchr14:45769358..45907992hg19UCSC Ensembl
Innerchr14:44839108..44977742hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38138635
hg19138635
hg18138635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148598
SamplesHGDP00920
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564727
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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