A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586487



Internal ID16373896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62315508..62400494hg38UCSC Ensembl
Innerchr20:60890564..60975550hg19UCSC Ensembl
Innerchr20:60323959..60408945hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3884987
hg1984987
hg1884987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7651n54
Supporting Variantsnssv1152386
SamplesHGDP00491
Known GenesCABLES2, LAMA5, MIR4758, RPS21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586487
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