A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055799



Internal ID18798330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54028231..54041178hg38UCSC Ensembl
Innerchr20:52644770..52657717hg19UCSC Ensembl
Innerchr20:52078177..52091124hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3812948
hg1912948
hg1812948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4326n100
Supporting Variantsnssv3586089
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)nsv1055799
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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