A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443083



Internal ID221488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23377775..23383222hg38UCSC Ensembl
chr2:23600646..23606093hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg385448
hg195448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911224
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443083
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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