A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565560



Internal ID16352969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93115086..93116362hg38UCSC Ensembl
Innerchr14:93581431..93582707hg19UCSC Ensembl
Innerchr14:92651184..92652460hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381277
hg191277
hg181277
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3848n54
Supporting Variantsnssv832386
Samples
Known GenesITPK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565560
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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