A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561078



Internal ID16001801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132481702..132605822hg38UCSC Ensembl
Innerchr12:133058288..133182408hg19UCSC Ensembl
Innerchr12:131568361..131692481hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38124121
hg19124121
hg18124121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3046n54
Supporting Variantsnssv805868
Samples
Known GenesFBRSL1, LRCOL1, MIR6763
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561078
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer