A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732543



Internal ID156209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44355984..44356096hg38UCSC Ensembl
chr20:42984624..42984736hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528932
Supporting Variants
Samples
Known GenesHNF4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732543
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002498


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