A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13198



Internal ID15496093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1022744..1026451hg38UCSC Ensembl
Outerchr5:1021594..1027160hg38UCSC Ensembl
Innerchr5:1022859..1026566hg19UCSC Ensembl
Outerchr5:1021709..1027275hg19UCSC Ensembl
Innerchr5:1075859..1079566hg18UCSC Ensembl
Outerchr5:1074709..1080275hg18UCSC Ensembl
Innerchr5:1075859..1079566hg17UCSC Ensembl
Outerchr5:1074709..1080275hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385567
hg195567
hg185567
hg175567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA19144
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)nssv13198
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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