A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453804



Internal ID231916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42616228..42628050hg38UCSC Ensembl
chr2:42843368..42855190hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3811823
hg1911823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911929
Samples
Known GenesMTA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453804
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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