A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10371



Internal ID15845334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:191346459..191354045hg38UCSC Ensembl
Outerchr3:191064248..191071834hg19UCSC Ensembl
Outerchr3:192546942..192554528hg18UCSC Ensembl
Outerchr3:192546950..192554536hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg387587
hg197587
hg187587
hg177587
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv29142, nssv28838, nssv28786, nssv11754, nssv11838, nssv29043, nssv29209, nssv12342, nssv13200, nssv11497, nssv29177, nssv13193, nssv11703, nssv11704, nssv28832, nssv29125, nssv12668, nssv11851, nssv12357, nssv12523, nssv29212, nssv11537, nssv12404, nssv11516, nssv28469, nssv29099, nssv11709, nssv29203, nssv12261
SamplesNA18502, NA11830, NA18980, NA07029, NA18504, NA12155, NA18563, NA12802, NA18860, NA18942, NA07048, NA10839, NA18975, NA19007, NA10847, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA19132, NA18517, NA18564, NA19240, NA19144, NA12740, NA18972, NA18552
Known GenesCCDC50
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)nsv10371
Frequency
Sample Size31
Observed Gain28
Observed Loss1
Observed Complex0
Frequencyn/a


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