A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449782



Internal ID228009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200712804..200712934hg38UCSC Ensembl
chr2:201577527..201577657hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922847
Samples
Known GenesAOX2P, LOC100507140
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449782
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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