A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565565



Internal ID16352974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93115246..93116415hg38UCSC Ensembl
Innerchr14:93581591..93582760hg19UCSC Ensembl
Innerchr14:92651344..92652513hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381170
hg191170
hg181170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3848n54
Supporting Variantsnssv832410, nssv832411
Samples
Known GenesITPK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565565
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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