A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542516



Internal ID316929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218476420..218476458hg38UCSC Ensembl
chr2:219341143..219341181hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928226
Samples
Known GenesUSP37
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542516
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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