A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23731



Internal ID15841966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22419103..22430398hg38UCSC Ensembl
Outerchr12:22417591..22436507hg38UCSC Ensembl
Innerchr12:22572037..22583332hg19UCSC Ensembl
Outerchr12:22570525..22589441hg19UCSC Ensembl
Innerchr12:22463304..22474599hg18UCSC Ensembl
Outerchr12:22461792..22480708hg18UCSC Ensembl
Innerchr12:22463304..22474599hg17UCSC Ensembl
Outerchr12:22461792..22480708hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3818917
hg1918917
hg1818917
hg1718917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8930
Supporting Variants
SamplesNA19132
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)nssv23731
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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