A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587849



Internal ID16375258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45448915..45484919hg38UCSC Ensembl
Innerchr21:46868829..46904833hg19UCSC Ensembl
Innerchr21:45693257..45729261hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3836005
hg1936005
hg1836005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7902n54
Supporting Variantsnssv1151420
SamplesHGDP00433
Known GenesCOL18A1, MIR6815
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587849
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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