A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561112



Internal ID16348521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132687746..132689045hg38UCSC Ensembl
Innerchr12:133264332..133265631hg19UCSC Ensembl
Innerchr12:131774405..131775704hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381300
hg191300
hg181300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3053n54
Supporting Variantsnssv805918
Samples
Known GenesPXMP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561112
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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