A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438183



Internal ID216753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85451377..85451442hg38UCSC Ensembl
chr2:85678500..85678565hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917347
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438183
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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