A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586494



Internal ID16373903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62326930..62427975hg38UCSC Ensembl
Innerchr20:60901986..61003031hg19UCSC Ensembl
Innerchr20:60335381..60436426hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38101046
hg19101046
hg18101046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7651n54
Supporting Variantsnssv1152389
Samples1780862275_A
Known GenesCABLES2, LAMA5, MIR4758, RBBP8NL, RPS21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586494
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