A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247



Internal ID15495356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:800072..818154hg38UCSC Ensembl
Outerchr5:798223..818968hg38UCSC Ensembl
Innerchr5:800187..818269hg19UCSC Ensembl
Outerchr5:798338..819083hg19UCSC Ensembl
Innerchr5:853187..871269hg18UCSC Ensembl
Outerchr5:851338..872083hg18UCSC Ensembl
Innerchr5:853187..871269hg17UCSC Ensembl
Outerchr5:851338..872083hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3820746
hg1920746
hg1820746
hg1720746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA19132
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)nssv14247
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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