A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056684



Internal ID18799215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43119604..43466239hg38UCSC Ensembl
Innerchr21:44539714..44886119hg19UCSC Ensembl
Innerchr21:43412783..43710547hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38346636
hg19346406
hg18297765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600213
Samples
Known GenesCRYAA, LINC00313, LINC00319, LINC00322, SIK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056684
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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