A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561123



Internal ID16348532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132729415..132729519hg38UCSC Ensembl
Innerchr12:133306001..133306105hg19UCSC Ensembl
Innerchr12:131816074..131816178hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38105
hg19105
hg18105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv805931
Samples
Known GenesANKLE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561123
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