A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520123



Internal ID15447416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45329803..45410958hg38UCSC Ensembl
Innerchr21:46749718..46830873hg19UCSC Ensembl
Innerchr21:45574146..45655301hg18UCSC Ensembl
Innerchr21:45574146..45655301hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3881156
hg1981156
hg1881156
hg1781156
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697234
Samples
Known GenesCOL18A1, COL18A1-AS2, LINC00316
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520123
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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