A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067222



Internal ID18809753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54028317..54041522hg38UCSC Ensembl
Innerchr20:52644856..52658061hg19UCSC Ensembl
Innerchr20:52078263..52091468hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3813206
hg1913206
hg1813206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4326n100
Supporting Variantsnssv3586090
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)nsv1067222
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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