A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26108



Internal ID15843871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:97938899..97944404hg38UCSC Ensembl
Outerchr12:97938479..97945517hg38UCSC Ensembl
Innerchr12:98332677..98338182hg19UCSC Ensembl
Outerchr12:98332257..98339295hg19UCSC Ensembl
Innerchr12:96856808..96862313hg18UCSC Ensembl
Outerchr12:96856388..96863426hg18UCSC Ensembl
Innerchr12:96835145..96840650hg17UCSC Ensembl
Outerchr12:96834725..96841763hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg387039
hg197039
hg187039
hg177039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9002
Supporting Variants
SamplesNA19221
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)nssv26108
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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