A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437743



Internal ID216327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71450281..71450630hg38UCSC Ensembl
chr2:71677411..71677760hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916097
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437743
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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