A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523938



Internal ID300153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77055249..77181065hg38UCSC Ensembl
chr17:75051331..75177147hg19UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg38125817
hg19125817
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725012
Samples
Known GenesLINC00338, MIR6516, SCARNA16, SEC14L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523938
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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