A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524287



Internal ID300494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51400877..51400928hg38UCSC Ensembl
chr20:50017414..50017465hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732937
Samples
Known GenesNFATC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524287
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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