A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439126



Internal ID217669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74117985..74144275hg38UCSC Ensembl
chr2:74345112..74371402hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3826291
hg1926291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914088
Samples
Known GenesBOLA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439126
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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