A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559204



Internal ID15999927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:64615463..64802197hg38UCSC Ensembl
Innerchr12:65009243..65195977hg19UCSC Ensembl
Innerchr12:63295510..63482244hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38186735
hg19186735
hg18186735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2682n54
Supporting Variantsnssv797556
Samples
Known GenesGNS, MIR548C, MIR548Z, RASSF3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559204
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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