A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515547



Internal ID292029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1327149..1337203hg38UCSC Ensembl
chr20:1307793..1317847hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3810055
hg1910055
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730248
Samples
Known GenesFKBP1A-SDCBP2, SDCBP2, SDCBP2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515547
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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