A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12675



Internal ID15487963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:726155..740669hg38UCSC Ensembl
Outerchr5:725684..741120hg38UCSC Ensembl
Innerchr5:726270..740784hg19UCSC Ensembl
Outerchr5:725799..741235hg19UCSC Ensembl
Innerchr5:779270..793784hg18UCSC Ensembl
Outerchr5:778799..794235hg18UCSC Ensembl
Innerchr5:779270..793784hg17UCSC Ensembl
Outerchr5:778799..794235hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3815437
hg1915437
hg1815437
hg1715437
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA18537
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)nssv12675
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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