A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13638



Internal ID15489657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70992535..71071754hg38UCSC Ensembl
Outerchr5:70990210..71072986hg38UCSC Ensembl
Innerchr5:70288362..70367581hg19UCSC Ensembl
Outerchr5:70286037..70368813hg19UCSC Ensembl
Innerchr5:70324118..70403337hg18UCSC Ensembl
Outerchr5:70321793..70404569hg18UCSC Ensembl
Innerchr5:70324118..70403337hg17UCSC Ensembl
Outerchr5:70321793..70404569hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3882777
hg1982777
hg1882777
hg1782777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18564
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, NAIP
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)nssv13638
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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