A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585947



Internal ID16026670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:36895055..36895696hg38UCSC Ensembl
Innerchr20:35523458..35524099hg19UCSC Ensembl
Innerchr20:34956872..34957513hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38642
hg19642
hg18642
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7564n54
Supporting Variantsnssv939338
Samples
Known GenesSAMHD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585947
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