A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15533



Internal ID15492635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69631429..69654366hg38UCSC Ensembl
Outerchr5:69629138..69654706hg38UCSC Ensembl
Innerchr5:68927256..68950193hg19UCSC Ensembl
Outerchr5:68924965..68950533hg19UCSC Ensembl
Innerchr5:68963012..68985949hg18UCSC Ensembl
Outerchr5:68960721..68986289hg18UCSC Ensembl
Innerchr5:68963012..68985949hg17UCSC Ensembl
Outerchr5:68960721..68986289hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3825569
hg1925569
hg1825569
hg1725569
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18972
Known GenesGUSBP3, LOC100272216, SMA4
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)nssv15533
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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