A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565528



Internal ID16006251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92950591..92993514hg38UCSC Ensembl
Innerchr14:93416936..93459859hg19UCSC Ensembl
Innerchr14:92486689..92529612hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3842924
hg1942924
hg1842924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3841n54
Supporting Variantsnssv1149542
SamplesNINDS_71
Known GenesITPK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565528
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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