A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727077



Internal ID150743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42685320..42687339hg38UCSC Ensembl
chr21:44105430..44107449hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382020
hg192020
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538244
Supporting Variants
Samples
Known GenesPDE9A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727077
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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