A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438506



Internal ID217069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86585585..86587842hg38UCSC Ensembl
chr2:86812708..86814965hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg382258
hg192258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915210
Samples
Known GenesRNF103-CHMP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438506
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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