A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8884



Internal ID15846796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:414559..429423hg38UCSC Ensembl
Outerchr12:523725..538589hg19UCSC Ensembl
Outerchr12:393986..408850hg18UCSC Ensembl
Outerchr12:393986..408850hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3814865
hg1914865
hg1814865
hg1714865
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20388, nssv18742, nssv18679, nssv20344, nssv22603, nssv23038, nssv20609, nssv19644, nssv23641, nssv20236, nssv20565, nssv20777, nssv20106
SamplesNA18502, NA18504, NA18563, NA18942, NA10839, NA18975, NA10863, NA18572, NA18537, NA18564, NA19173, NA18972, NA18552
Known GenesCCDC77
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)nsv8884
Frequency
Sample Size31
Observed Gain2
Observed Loss11
Observed Complex0
Frequencyn/a


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