A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544132



Internal ID15165745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24539449..25204746hg38UCSC Ensembl
Innerchr12:24692383..25357680hg19UCSC Ensembl
Innerchr12:24583650..25248947hg18UCSC Ensembl
Innerchr12:24583650..25248947hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38665298
hg19665298
hg18665298
hg17665298
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469169
Supporting Variants
SamplesNINDS_249
Known GenesBCAT1, C12orf77, CASC1, LINC00477, LRMP, LYRM5, SOX5
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv544132
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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