A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514855



Internal ID8779767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59032713..59040617hg38UCSC Ensembl
Innerchr17:57110074..57117978hg19UCSC Ensembl
Innerchr17:54464856..54472760hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg387905
hg197905
hg187905
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2834948, nssv2834949, nssv2834945, nssv2834944, nssv2834946, nssv2834943, nssv2834947
SamplesNA21447, NA18994, NA18956, NA18959, NA18942, NA18974, NA21439
Known GenesTRIM37
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514855
Frequency
Sample Size2366
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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