A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561100



Internal ID16001823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132510418..132514205hg38UCSC Ensembl
Innerchr12:133087004..133090791hg19UCSC Ensembl
Innerchr12:131597077..131600864hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383788
hg193788
hg183788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv805910
Samples
Known GenesFBRSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561100
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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