A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560281



Internal ID16001004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113830344..113830839hg38UCSC Ensembl
Innerchr12:114268149..114268644hg19UCSC Ensembl
Innerchr12:112752532..112753027hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38496
hg19496
hg18496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2886n54
Supporting Variantsnssv802753, nssv802752
Samples
Known GenesRBM19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560281
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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