A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559205



Internal ID15999928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:64997940..65143890hg38UCSC Ensembl
Innerchr12:65391720..65537670hg19UCSC Ensembl
Innerchr12:63677987..63823937hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38145951
hg19145951
hg18145951
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176415
SamplesNINDS_198
Known GenesWIF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559205
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