A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544281



Internal ID15506309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:62357461..62408863hg38UCSC Ensembl
Innerchr12:62751242..62802643hg19UCSC Ensembl
Innerchr12:61037509..61088910hg18UCSC Ensembl
Innerchr12:61037509..61088910hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3851403
hg1951402
hg1851402
hg1751402
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469417
Supporting Variants
SamplesHGDP00461
Known GenesUSP15
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)nssv544281
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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