A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055549



Internal ID18798080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:53939332..53969742hg38UCSC Ensembl
Innerchr20:52555871..52586281hg19UCSC Ensembl
Innerchr20:51989278..52019688hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3830411
hg1930411
hg1830411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586084
Samples
Known GenesBCAS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055549
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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