A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514226



Internal ID15812643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:72554619..72752739hg38UCSC Ensembl
Innerchr4:73420336..73618456hg19UCSC Ensembl
Innerchr4:73639200..73837320hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38198121
hg19198121
hg18198121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2910897, nssv2910895, nssv2910904, nssv2910903, nssv2910907, nssv2910901, nssv2910911, nssv2910906, nssv2910900, nssv2910908, nssv2910905, nssv2910909, nssv2910910, nssv2910896, nssv2910899, nssv2910898, nssv2910902
SamplesNA18508, NA18935, NA18870, NA19197, NA19138, NA19199, NA18868, NA19137, NA19128, NA19239, NA18933, NA18516, NA19179, NA19108, NA19093, NA19185, NA19129
Known GenesADAMTS3
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514226
Frequency
Sample Size2366
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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