A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12670



Internal ID15484932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71130373..71239317hg38UCSC Ensembl
Outerchr5:71129844..71239454hg38UCSC Ensembl
Innerchr5:70426200..70535144hg19UCSC Ensembl
Outerchr5:70425671..70535281hg19UCSC Ensembl
Innerchr5:70461956..70570900hg18UCSC Ensembl
Outerchr5:70461427..70571037hg18UCSC Ensembl
Innerchr5:70461956..70570900hg17UCSC Ensembl
Outerchr5:70461427..70571037hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38109611
hg19109611
hg18109611
hg17109611
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12802
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)nssv12670
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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