A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434233



Internal ID212913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60467405..60467675hg38UCSC Ensembl
chr2:60694540..60694810hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725886
Samples
Known GenesBCL11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434233
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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