A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469377



Internal ID15182756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51296967..51340167hg38UCSC Ensembl
Innerchr12:51690751..51733951hg19UCSC Ensembl
Innerchr12:49977018..50020218hg18UCSC Ensembl
Innerchr12:49977018..50020218hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3843201
hg1943201
hg1843201
hg1743201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544262
SamplesHGDP00845
Known GenesBIN2, CELA1
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)nsv469377
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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