A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469468



Internal ID15529533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:73678489..73744820hg38UCSC Ensembl
Innerchr12:74072269..74138600hg19UCSC Ensembl
Innerchr12:72358536..72424867hg18UCSC Ensembl
Innerchr12:72358536..72424867hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3866332
hg1966332
hg1866332
hg1766332
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544329
SamplesHGDP00336
Known Genes
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)nsv469468
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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