A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13185



Internal ID15488366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69923134..69977369hg38UCSC Ensembl
Outerchr5:69922718..69977586hg38UCSC Ensembl
Innerchr5:69218961..69273196hg19UCSC Ensembl
Outerchr5:69218545..69273413hg19UCSC Ensembl
Innerchr5:69254717..69308952hg18UCSC Ensembl
Outerchr5:69254301..69309169hg18UCSC Ensembl
Innerchr5:69254717..69308952hg17UCSC Ensembl
Outerchr5:69254301..69309169hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3854869
hg1954869
hg1854869
hg1754869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18537
Known GenesSMA4
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)nssv13185
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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