A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14918



Internal ID15483696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180291272..180304841hg38UCSC Ensembl
Outerchr5:180290724..180305388hg38UCSC Ensembl
Innerchr5:179718272..179731841hg19UCSC Ensembl
Outerchr5:179717724..179732388hg19UCSC Ensembl
Innerchr5:179650878..179664447hg18UCSC Ensembl
Outerchr5:179650330..179664994hg18UCSC Ensembl
Innerchr5:179650878..179664447hg17UCSC Ensembl
Outerchr5:179650330..179664994hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3814665
hg1914665
hg1814665
hg1714665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10787
Supporting Variants
SamplesNA12155
Known GenesGFPT2, MAPK9
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)nssv14918
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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