A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15053



Internal ID15492619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:843549..846963hg38UCSC Ensembl
Outerchr5:843355..849012hg38UCSC Ensembl
Innerchr5:843664..847078hg19UCSC Ensembl
Outerchr5:843470..849127hg19UCSC Ensembl
Innerchr5:896664..900078hg18UCSC Ensembl
Outerchr5:896470..902127hg18UCSC Ensembl
Innerchr5:896664..900078hg17UCSC Ensembl
Outerchr5:896470..902127hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385658
hg195658
hg185658
hg175658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA18972
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)nssv15053
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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