A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515663



Internal ID292142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43718997..43731185hg38UCSC Ensembl
chr20:42347637..42359825hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3812189
hg1912189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732505
Samples
Known GenesGTSF1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515663
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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