A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15147



Internal ID15495008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70771157..70784409hg38UCSC Ensembl
Outerchr5:70770807..70784525hg38UCSC Ensembl
Innerchr5:70066984..70080236hg19UCSC Ensembl
Outerchr5:70066634..70080352hg19UCSC Ensembl
Innerchr5:70102740..70115992hg18UCSC Ensembl
Outerchr5:70102390..70116108hg18UCSC Ensembl
Innerchr5:70102740..70115992hg17UCSC Ensembl
Outerchr5:70102390..70116108hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3813719
hg1913719
hg1813719
hg1713719
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19132
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)nssv15147
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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