A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14953



Internal ID15487082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70291191..70474191hg38UCSC Ensembl
Outerchr5:70291154..70474392hg38UCSC Ensembl
Innerchr5:69587018..69770018hg19UCSC Ensembl
Outerchr5:69586981..69770219hg19UCSC Ensembl
Innerchr5:69622774..69805774hg18UCSC Ensembl
Outerchr5:69622737..69805975hg18UCSC Ensembl
Innerchr5:69622774..69805774hg17UCSC Ensembl
Outerchr5:69622737..69805975hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38183239
hg19183239
hg18183239
hg17183239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18504
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, SMA4
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)nssv14953
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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