A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515716



Internal ID15096323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111761276..111868361hg38UCSC Ensembl
Innerchr12:112199080..112306165hg19UCSC Ensembl
Innerchr12:110683463..110790548hg18UCSC Ensembl
Innerchr12:110661800..110768885hg17UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38107086
hg19107086
hg18107086
hg17107086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv664521, nssv662555
Samples
Known GenesALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515716
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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