A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13806



Internal ID15483025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71250111..71278803hg38UCSC Ensembl
Outerchr5:71249231..71279427hg38UCSC Ensembl
Innerchr5:70545938..70574630hg19UCSC Ensembl
Outerchr5:70545058..70575254hg19UCSC Ensembl
Innerchr5:70581694..70610386hg18UCSC Ensembl
Outerchr5:70580814..70611010hg18UCSC Ensembl
Innerchr5:70581694..70610386hg17UCSC Ensembl
Outerchr5:70580814..70611010hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3830197
hg1930197
hg1830197
hg1730197
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10863
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)nssv13806
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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