A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544516



Internal ID318654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:59254265..59254265hg38UCSC Ensembl
chr10:61014025..61014025hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17036245
Samples
Known GenesFAM13C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544516
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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