A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516083



Internal ID15443376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:29116979..29121929hg38UCSC Ensembl
Innerchr21:30489300..30494250hg19UCSC Ensembl
Innerchr21:29411171..29416121hg18UCSC Ensembl
Innerchr21:29411171..29416121hg17UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg384951
hg194951
hg184951
hg174951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv677579, nssv678030, nssv666107
Samples
Known GenesMAP3K7CL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516083
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer