A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453210



Internal ID231341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42591000..42605619hg38UCSC Ensembl
chr2:42818140..42832759hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3814620
hg1914620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911923
Samples
Known GenesMTA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453210
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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