A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13935



Internal ID15488197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181394867..181394867hg38UCSC Ensembl
Outerchr5:181394797..181395974hg38UCSC Ensembl
Innerchr5:180821868..180821868hg19UCSC Ensembl
Outerchr5:180821798..180822975hg19UCSC Ensembl
Innerchr5:180754474..180754474hg18UCSC Ensembl
Outerchr5:180754404..180755581hg18UCSC Ensembl
Innerchr5:180754474..180754474hg17UCSC Ensembl
Outerchr5:180754404..180755581hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381178
hg191178
hg181178
hg171178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10793
Supporting Variants
SamplesNA18537
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)nssv13935
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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