A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522921



Internal ID299175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1329994..1336990hg38UCSC Ensembl
chr20:1310638..1317634hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg386997
hg196997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730249
Samples
Known GenesFKBP1A-SDCBP2, SDCBP2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522921
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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