A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731987



Internal ID155653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32840985..32843973hg38UCSC Ensembl
chr20:31428791..31431779hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg382989
hg192989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533282
Supporting Variants
Samples
Known GenesMAPRE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731987
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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