A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12640



Internal ID15484931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70901786..70947999hg38UCSC Ensembl
Outerchr5:70901080..70949355hg38UCSC Ensembl
Innerchr5:70197613..70243826hg19UCSC Ensembl
Outerchr5:70196907..70245182hg19UCSC Ensembl
Innerchr5:70233369..70279582hg18UCSC Ensembl
Outerchr5:70232663..70280938hg18UCSC Ensembl
Innerchr5:70233369..70279582hg17UCSC Ensembl
Outerchr5:70232663..70280938hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3848276
hg1948276
hg1848276
hg1748276
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12802
Known GenesSERF1A, SERF1B, 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)nssv12640
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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