A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436073



Internal ID214698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176455250..176461124hg38UCSC Ensembl
chr2:177319978..177325852hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385875
hg195875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922570
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436073
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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