A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15623



Internal ID15492638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70202711..70234107hg38UCSC Ensembl
Outerchr5:70202502..70234447hg38UCSC Ensembl
Innerchr5:69498538..69529934hg19UCSC Ensembl
Outerchr5:69498329..69530274hg19UCSC Ensembl
Innerchr5:69534294..69565690hg18UCSC Ensembl
Outerchr5:69534085..69566030hg18UCSC Ensembl
Innerchr5:69534294..69565690hg17UCSC Ensembl
Outerchr5:69534085..69566030hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3831946
hg1931946
hg1831946
hg1731946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18972
Known GenesGUSBP9, 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)nssv15623
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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