A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057686



Internal ID18800217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:46105657..46434770hg38UCSC Ensembl
Innerchr20:44734296..45063409hg19UCSC Ensembl
Innerchr20:44167703..44496816hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38329114
hg19329114
hg18329114
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584942
Samples
Known GenesCD40, CDH22, ELMO2, SLC35C2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057686
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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