A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13234



Internal ID15481937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1070104..1073531hg38UCSC Ensembl
Outerchr5:1069657..1074100hg38UCSC Ensembl
Innerchr5:1070219..1073646hg19UCSC Ensembl
Outerchr5:1069772..1074215hg19UCSC Ensembl
Innerchr5:1123219..1126646hg18UCSC Ensembl
Outerchr5:1122772..1127215hg18UCSC Ensembl
Innerchr5:1123219..1126646hg17UCSC Ensembl
Outerchr5:1122772..1127215hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg384444
hg194444
hg184444
hg174444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA10839
Known GenesSLC12A7
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)nssv13234
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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