A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9615



Internal ID15847527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14441577..14609354hg38UCSC Ensembl
Outerchr18:14441576..14609353hg19UCSC Ensembl
Outerchr18:14431576..14599353hg18UCSC Ensembl
Outerchr18:14431576..14599353hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38167778
hg19167778
hg18167778
hg17167778
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27085, nssv23358, nssv26199, nssv26578, nssv24181, nssv24939, nssv27260, nssv23755, nssv21190, nssv26629, nssv24394, nssv27254, nssv25087, nssv25745, nssv26616
SamplesNA18502, NA11830, NA18504, NA12155, NA18563, NA12802, NA18942, NA18975, NA19132, NA18564, NA19240, NA19144, NA12740, NA18972
Known GenesCXADRP3, POTEC
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)nsv9615
Frequency
Sample Size31
Observed Gain5
Observed Loss9
Observed Complex0
Frequencyn/a


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