A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19222



Internal ID15838761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52384229..52385928hg38UCSC Ensembl
Outerchr12:52382458..52386879hg38UCSC Ensembl
Innerchr12:52778013..52779712hg19UCSC Ensembl
Outerchr12:52776242..52780663hg19UCSC Ensembl
Innerchr12:51064280..51065979hg18UCSC Ensembl
Outerchr12:51062509..51066930hg18UCSC Ensembl
Innerchr12:51064280..51065979hg17UCSC Ensembl
Outerchr12:51062509..51066930hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384422
hg194422
hg184422
hg174422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8972
Supporting Variants
SamplesNA18942
Known GenesKRT84
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)nssv19222
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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