A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514392



Internal ID15812805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:140066594..140069122hg38UCSC Ensembl
Innerchr6:140387731..140390259hg19UCSC Ensembl
Innerchr6:140429424..140431952hg18UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg382529
hg192529
hg182529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2923227, nssv2923228, nssv2923225, nssv2923224, nssv2923226
SamplesNA18969, NA18995, NA18605, NA18593, NA18952
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514392
Frequency
Sample Size2366
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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