A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9391



Internal ID15847303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:13353541..13458191hg38UCSC Ensembl
Outerchr2:13493666..13598316hg19UCSC Ensembl
Outerchr2:13411117..13515767hg18UCSC Ensembl
Outerchr2:13444264..13548914hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38104651
hg19104651
hg18104651
hg17104651
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23391, nssv25947, nssv27034, nssv23081, nssv27038, nssv22766, nssv25165, nssv26172, nssv23987, nssv26566, nssv27825, nssv28679, nssv23084, nssv28393, nssv26865, nssv27168, nssv26725, nssv25162, nssv25439
SamplesNA11830, NA18980, NA12155, NA12802, NA18942, NA07048, NA10863, NA19221, NA19132, NA18517, NA19240, NA19144, NA12740
Known Genes
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)nsv9391
Frequency
Sample Size31
Observed Gain4
Observed Loss9
Observed Complex0
Frequencyn/a


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