A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444554



Internal ID222924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21110675..21116956hg38UCSC Ensembl
chr2:21333547..21339828hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg386282
hg196282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910227
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444554
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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