A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444067



Internal ID222449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:82429798..82555301hg38UCSC Ensembl
chr2:82656922..82782425hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38125504
hg19125504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917265
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444067
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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