A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15833



Internal ID15492645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71203096..71216268hg38UCSC Ensembl
Outerchr5:71202887..71216421hg38UCSC Ensembl
Innerchr5:70498923..70512095hg19UCSC Ensembl
Outerchr5:70498714..70512248hg19UCSC Ensembl
Innerchr5:70534679..70547851hg18UCSC Ensembl
Outerchr5:70534470..70548004hg18UCSC Ensembl
Innerchr5:70534679..70547851hg17UCSC Ensembl
Outerchr5:70534470..70548004hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3813535
hg1913535
hg1813535
hg1713535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18972
Known GenesGUSBP9
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)nssv15833
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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