A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449216



Internal ID227459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200774447..200774643hg38UCSC Ensembl
chr2:201639170..201639366hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922858
Samples
Known GenesAOX2P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449216
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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