A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560278



Internal ID16001001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113830291..113830839hg38UCSC Ensembl
Innerchr12:114268096..114268644hg19UCSC Ensembl
Innerchr12:112752479..112753027hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38549
hg19549
hg18549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2886n54
Supporting Variantsnssv802748, nssv802747, nssv802749, nssv802745, nssv802746
Samples
Known GenesRBM19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560278
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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