A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587781



Internal ID16375190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44344514..44447588hg38UCSC Ensembl
Innerchr21:45764397..45867471hg19UCSC Ensembl
Innerchr21:44588825..44691899hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38103075
hg19103075
hg18103075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv948322
Samples
Known GenesTRPM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587781
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