A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560559



Internal ID16001282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124540407..124541491hg38UCSC Ensembl
Innerchr12:125024953..125026037hg19UCSC Ensembl
Innerchr12:123590906..123591990hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381085
hg191085
hg181085
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2938n54
Supporting Variantsnssv803976, nssv803975, nssv803974
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560559
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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