A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725942



Internal ID149608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35780598..35784119hg38UCSC Ensembl
chr20:34368520..34372041hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg383522
hg193522
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521821
Supporting Variants
Samples
Known GenesPHF20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725942
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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