A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455812



Internal ID15515877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132813412..132886923hg38UCSC Ensembl
Innerchr12:133389998..133463509hg19UCSC Ensembl
Innerchr12:131900071..131973582hg18UCSC Ensembl
Innerchr12:132000348..132073859hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3873512
hg1973512
hg1873512
hg1773512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533288
SamplesHGDP00232
Known GenesCHFR, GOLGA3
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)nsv455812
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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