A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067412



Internal ID18809943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43106546..43352250hg38UCSC Ensembl
Innerchr21:44526656..44772130hg19UCSC Ensembl
Innerchr21:43399725..43596558hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38245705
hg19245475
hg18196834
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3733456
Samples
Known GenesCRYAA, LINC00322, U2AF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067412
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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