A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438801



Internal ID217351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197733618..197741809hg38UCSC Ensembl
chr2:198598342..198606533hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg388192
hg198192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923388
Samples
Known GenesBOLL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438801
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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