A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13374



Internal ID15840283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62302015..62304605hg38UCSC Ensembl
Outerchr5:62300351..62305666hg38UCSC Ensembl
Innerchr5:61597842..61600432hg19UCSC Ensembl
Outerchr5:61596178..61601493hg19UCSC Ensembl
Innerchr5:61633599..61636189hg18UCSC Ensembl
Outerchr5:61631935..61637250hg18UCSC Ensembl
Innerchr5:61633599..61636189hg17UCSC Ensembl
Outerchr5:61631935..61637250hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg385316
hg195316
hg185316
hg175316
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10703
Supporting Variants
SamplesNA18975
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)nssv13374
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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