A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469496



Internal ID15529561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:83620580..83680696hg38UCSC Ensembl
Innerchr12:84014359..84074475hg19UCSC Ensembl
Innerchr12:82538490..82598606hg18UCSC Ensembl
Innerchr12:82516827..82576943hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3860117
hg1960117
hg1860117
hg1760117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544354
SamplesHGDP00736
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)nsv469496
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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