A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20776



Internal ID15488804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106755665..106972619hg38UCSC Ensembl
Outerchr12:106625455..106973352hg38UCSC Ensembl
Innerchr12:107149443..107366397hg19UCSC Ensembl
Outerchr12:107019233..107367130hg19UCSC Ensembl
Innerchr12:105673573..105890527hg18UCSC Ensembl
Outerchr12:105543363..105891260hg18UCSC Ensembl
Innerchr12:105651910..105868864hg17UCSC Ensembl
Outerchr12:105521700..105869597hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38347898
hg19347898
hg18347898
hg17347898
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9005
Supporting Variants
SamplesNA18552
Known GenesC12orf23, LOC100287944, LOC100505978, RFX4, RIC8B
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)nssv20776
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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