A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12735



Internal ID15487938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:791936..802404hg38UCSC Ensembl
Outerchr5:788591..803228hg38UCSC Ensembl
Innerchr5:792051..802519hg19UCSC Ensembl
Outerchr5:788706..803343hg19UCSC Ensembl
Innerchr5:845051..855519hg18UCSC Ensembl
Outerchr5:841706..856343hg18UCSC Ensembl
Innerchr5:845051..855519hg17UCSC Ensembl
Outerchr5:841706..856343hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3814638
hg1914638
hg1814638
hg1714638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA18537
Known GenesZDHHC11
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)nssv12735
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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