A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10795



Internal ID15845758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181461285..181470484hg38UCSC Ensembl
Outerchr5:180888286..180897485hg19UCSC Ensembl
Outerchr5:180820892..180830091hg18UCSC Ensembl
Outerchr5:180820892..180830091hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg389200
hg199200
hg189200
hg179200
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16313, nssv13676
SamplesNA19007, NA18972
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)nsv10795
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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