A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056976



Internal ID18799507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:48374684..48832634hg38UCSC Ensembl
Innerchr20:47003427..47449171hg19UCSC Ensembl
Innerchr20:46436834..46882578hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38457951
hg19445745
hg18445745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584950
Samples
Known GenesPREX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056976
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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