A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13984



Internal ID15482095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71280089..71353028hg38UCSC Ensembl
Outerchr5:71279516..71353758hg38UCSC Ensembl
Innerchr5:70575916..70648855hg19UCSC Ensembl
Outerchr5:70575343..70649585hg19UCSC Ensembl
Innerchr5:70611672..70684611hg18UCSC Ensembl
Outerchr5:70611099..70685341hg18UCSC Ensembl
Innerchr5:70611672..70684611hg17UCSC Ensembl
Outerchr5:70611099..70685341hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3874243
hg1974243
hg1874243
hg1774243
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10839
Known Genes
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)nssv13984
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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