A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565527



Internal ID16006250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92945559..92991406hg38UCSC Ensembl
Innerchr14:93411904..93457751hg19UCSC Ensembl
Innerchr14:92481657..92527504hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3845848
hg1945848
hg1845848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3841n54
Supporting Variantsnssv832179
Samples
Known GenesITPK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565527
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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