A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600238



Internal ID18551833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45466796..45511534hg38UCSC Ensembl
Innerchr21:46886710..46931448hg19UCSC Ensembl
Innerchr21:45711138..45755876hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3844739
hg1944739
hg1844739
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061760
Supporting Variants
Samples
Known GenesCOL18A1, MIR6815
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600238
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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