A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12581



Internal ID15832033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:94567754..94569999hg38UCSC Ensembl
Outerchr5:94566245..94570523hg38UCSC Ensembl
Innerchr5:93903459..93905704hg19UCSC Ensembl
Outerchr5:93901950..93906228hg19UCSC Ensembl
Innerchr5:93929215..93931460hg18UCSC Ensembl
Outerchr5:93927706..93931984hg18UCSC Ensembl
Innerchr5:93929215..93931460hg17UCSC Ensembl
Outerchr5:93927706..93931984hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg384279
hg194279
hg184279
hg174279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10715
Supporting Variants
SamplesNA12872
Known GenesKIAA0825
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)nssv12581
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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