A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437568



Internal ID216153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227868183..227870570hg38UCSC Ensembl
chr2:228732899..228735286hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg382388
hg192388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925706
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437568
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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