A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450931



Internal ID229124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60056447..60061182hg38UCSC Ensembl
chr2:60283582..60288317hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg384736
hg194736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914261
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450931
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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