A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13292



Internal ID15480920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70545286..71247415hg38UCSC Ensembl
Outerchr5:70544334..71247543hg38UCSC Ensembl
Innerchr5:69841113..70543242hg19UCSC Ensembl
Outerchr5:69840161..70543370hg19UCSC Ensembl
Innerchr5:69876869..70578998hg18UCSC Ensembl
Outerchr5:69875917..70579126hg18UCSC Ensembl
Innerchr5:69876869..70578998hg17UCSC Ensembl
Outerchr5:69875917..70579126hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38703210
hg19703210
hg18703210
hg17703210
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA07029
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC647859, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
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)nssv13292
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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