A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13711



Internal ID15497986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:678070..849012hg38UCSC Ensembl
Outerchr5:677765..850063hg38UCSC Ensembl
Innerchr5:678185..849127hg19UCSC Ensembl
Outerchr5:677880..850178hg19UCSC Ensembl
Innerchr5:731185..902127hg18UCSC Ensembl
Outerchr5:730880..903178hg18UCSC Ensembl
Innerchr5:731185..902127hg17UCSC Ensembl
Outerchr5:730880..903178hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38172299
hg19172299
hg18172299
hg17172299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA19240
Known GenesTPPP, ZDHHC11
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)nssv13711
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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