A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12736



Internal ID15488871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1022744..1027640hg38UCSC Ensembl
Outerchr5:1021594..1028651hg38UCSC Ensembl
Innerchr5:1022859..1027755hg19UCSC Ensembl
Outerchr5:1021709..1028766hg19UCSC Ensembl
Innerchr5:1075859..1080755hg18UCSC Ensembl
Outerchr5:1074709..1081766hg18UCSC Ensembl
Innerchr5:1075859..1080755hg17UCSC Ensembl
Outerchr5:1074709..1081766hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg387058
hg197058
hg187058
hg177058
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA18552
Known GenesNKD2
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)nssv12736
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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