A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443471



Internal ID221868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241563809..241564532hg38UCSC Ensembl
chr2:242503224..242503947hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928807
Samples
Known GenesBOK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443471
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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