A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540479



Internal ID315237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51831699..51831699hg38UCSC Ensembl
chr17:49909059..49909059hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713626
Samples
Known GenesCA10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540479
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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