A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565546



Internal ID16006269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93058600..93082393hg38UCSC Ensembl
Innerchr14:93524945..93548738hg19UCSC Ensembl
Innerchr14:92594698..92618491hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3823794
hg1923794
hg1823794
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv832341
Samples
Known GenesITPK1, ITPK1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565546
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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