A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10644



Internal ID15845607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:207917..237752hg38UCSC Ensembl
Outerchr5:208032..237867hg19UCSC Ensembl
Outerchr5:261032..290867hg18UCSC Ensembl
Outerchr5:261032..290867hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3829836
hg1929836
hg1829836
hg1729836
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13263, nssv14157, nssv12587, nssv13078, nssv14271, nssv13075, nssv12697, nssv12646, nssv12632, nssv13651, nssv15150, nssv13928, nssv13621, nssv14232
SamplesNA18502, NA11830, NA18980, NA07029, NA12155, NA18563, NA18860, NA07048, NA19221, NA19132, NA19240, NA19144, NA18552
Known GenesCCDC127, SDHA
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)nsv10644
Frequency
Sample Size31
Observed Gain10
Observed Loss4
Observed Complex0
Frequencyn/a


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