A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24031



Internal ID15494908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99400260..99402284hg38UCSC Ensembl
Outerchr12:99399639..99409701hg38UCSC Ensembl
Innerchr12:99794038..99796062hg19UCSC Ensembl
Outerchr12:99793417..99803479hg19UCSC Ensembl
Innerchr12:98318169..98320193hg18UCSC Ensembl
Outerchr12:98317548..98327610hg18UCSC Ensembl
Innerchr12:98296506..98298530hg17UCSC Ensembl
Outerchr12:98295885..98305947hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3810063
hg1910063
hg1810063
hg1710063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9004
Supporting Variants
SamplesNA19132
Known GenesANKS1B
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)nssv24031
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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