A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558220



Internal ID331292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43122116..43122150hg38UCSC Ensembl
chr2:43349255..43349289hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381651
hg191651
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911642
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558220
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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