A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13479



Internal ID15484607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1574501..1632775hg38UCSC Ensembl
Outerchr5:1544313..1633258hg38UCSC Ensembl
Innerchr5:1574616..1632890hg19UCSC Ensembl
Outerchr5:1544428..1633373hg19UCSC Ensembl
Innerchr5:1627616..1685890hg18UCSC Ensembl
Outerchr5:1597428..1686373hg18UCSC Ensembl
Innerchr5:1627616..1685890hg17UCSC Ensembl
Outerchr5:1597428..1686373hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3888946
hg1988946
hg1888946
hg1788946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10657
Supporting Variants
SamplesNA12740
Known GenesLOC728613, SDHAP3
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)nssv13479
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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