A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514314



Internal ID15812727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:91318939..91325147hg38UCSC Ensembl
Innerchr5:90614756..90620964hg19UCSC Ensembl
Innerchr5:90650512..90656720hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg386209
hg196209
hg186209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2926963, nssv2926964, nssv2926966, nssv2926968, nssv2926971, nssv2926970, nssv2926967, nssv2926972, nssv2926969, nssv2926965, nssv2926973
SamplesNA18862, NA18935, NA19107, NA18916, NA19130, NA19207, NA18934, NA19208, NA19150, NA19151, NA18863
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514314
Frequency
Sample Size2366
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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