A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9568



Internal ID15500794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47536295..47595407hg38UCSC Ensembl
Outerchr17:45613661..45672773hg19UCSC Ensembl
Outerchr17:42968660..43027772hg18UCSC Ensembl
Outerchr17:42968660..43027772hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3859113
hg1959113
hg1859113
hg1759113
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26506, nssv27457, nssv26015, nssv24668, nssv23502, nssv24340, nssv23162, nssv21185, nssv27132, nssv25310, nssv28325, nssv25534, nssv27465, nssv24763, nssv21649, nssv26520, nssv23134, nssv27084, nssv23940, nssv24642, nssv23625, nssv27130, nssv26975, nssv24427, nssv21619, nssv24048, nssv26322
SamplesNA18975, NA19173, NA10847, NA18972, NA18517, NA19144, NA18860, NA10863, NA12155, NA18563, NA18537, NA18572, NA18502, NA18504, NA18942, NA19221, NA18552, NA19132, NA19240, NA18853, NA19007, NA18980
Known GenesNPEPPS
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv9568
Frequency
Sample Size31
Observed Gain14
Observed Loss12
Observed Complex0
Frequencyn/a


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