A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15133



Internal ID15486759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71009954..71014491hg38UCSC Ensembl
Outerchr5:71008463..71015386hg38UCSC Ensembl
Innerchr5:70305781..70310318hg19UCSC Ensembl
Outerchr5:70304290..70311213hg19UCSC Ensembl
Innerchr5:70341537..70346074hg18UCSC Ensembl
Outerchr5:70340046..70346969hg18UCSC Ensembl
Innerchr5:70341537..70346074hg17UCSC Ensembl
Outerchr5:70340046..70346969hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg386924
hg196924
hg186924
hg176924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18504
Known GenesNAIP
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)nssv15133
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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