A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9232



Internal ID15500458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:30092641..30798344hg38UCSC Ensembl
Outerchr15:30384844..31090547hg19UCSC Ensembl
Outerchr15:28172136..28877839hg18UCSC Ensembl
Outerchr15:28172136..28877839hg17UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38705704
hg19705704
hg18705704
hg17705704
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27333, nssv23204, nssv25533, nssv22196, nssv23316, nssv19909, nssv23260, nssv19939, nssv23232, nssv22286, nssv27360, nssv22226, nssv23317, nssv23288, nssv27257, nssv22256, nssv21856, nssv25247, nssv25821, nssv25799, nssv27267, nssv23403, nssv22070, nssv27351, nssv27342, nssv25842, nssv19879, nssv23289, nssv27306, nssv22166, nssv27324, nssv27315, nssv23345, nssv25124
SamplesNA18502, NA11830, NA12155, NA19007, NA18572, NA19221, NA18853, NA19132, NA18517, NA18972, NA18552
Known GenesARHGAP11B, CHRFAM7A, DKFZP434L187, GOLGA8H, GOLGA8J, GOLGA8T, LOC100288637, LOC101059918, ULK4P1, ULK4P2, ULK4P3
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)nsv9232
Frequency
Sample Size31
Observed Gain2
Observed Loss9
Observed Complex0
Frequencyn/a


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