A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435903



Internal ID214533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43421701..43468344hg38UCSC Ensembl
chr2:43648840..43695483hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3846644
hg1946644
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911950
Samples
Known GenesTHADA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435903
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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