A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447175



Internal ID225486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200788934..200792267hg38UCSC Ensembl
chr2:201653657..201656990hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383334
hg193334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922859
Samples
Known GenesAOX2P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447175
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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