A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13854



Internal ID15493388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180301938..180304841hg38UCSC Ensembl
Outerchr5:180301589..180305388hg38UCSC Ensembl
Innerchr5:179728938..179731841hg19UCSC Ensembl
Outerchr5:179728589..179732388hg19UCSC Ensembl
Innerchr5:179661544..179664447hg18UCSC Ensembl
Outerchr5:179661195..179664994hg18UCSC Ensembl
Innerchr5:179661544..179664447hg17UCSC Ensembl
Outerchr5:179661195..179664994hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383800
hg193800
hg183800
hg173800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10787
Supporting Variants
SamplesNA18975
Known GenesGFPT2
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)nssv13854
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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