A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469173



Internal ID15182552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24738241..25054719hg38UCSC Ensembl
Innerchr12:24891175..25207653hg19UCSC Ensembl
Innerchr12:24782442..25098920hg18UCSC Ensembl
Innerchr12:24782442..25098920hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38316479
hg19316479
hg18316479
hg17316479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544135
SamplesHGDP01379
Known GenesBCAT1, C12orf77, LRMP
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)nsv469173
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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