A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15254



Internal ID15487492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69669181..69894925hg38UCSC Ensembl
Outerchr5:69668229..69895275hg38UCSC Ensembl
Innerchr5:68965008..69190752hg19UCSC Ensembl
Outerchr5:68964056..69191102hg19UCSC Ensembl
Innerchr5:69000764..69226508hg18UCSC Ensembl
Outerchr5:68999812..69226858hg18UCSC Ensembl
Innerchr5:69000764..69226508hg17UCSC Ensembl
Outerchr5:68999812..69226858hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38227047
hg19227047
hg18227047
hg17227047
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18517
Known GenesGUSBP3, GUSBP9, 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)nssv15254
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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