A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20688



Internal ID15836415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30305231..30307482hg38UCSC Ensembl
Outerchr12:30304229..30309565hg38UCSC Ensembl
Innerchr12:30458164..30460415hg19UCSC Ensembl
Outerchr12:30457162..30462498hg19UCSC Ensembl
Innerchr12:30349431..30351682hg18UCSC Ensembl
Outerchr12:30348429..30353765hg18UCSC Ensembl
Innerchr12:30349431..30351682hg17UCSC Ensembl
Outerchr12:30348429..30353765hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg385337
hg195337
hg185337
hg175337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8937
Supporting Variants
SamplesNA18564
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)nssv20688
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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