A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555188



Internal ID328352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200763932..200763983hg38UCSC Ensembl
chr2:201628655..201628706hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381184
hg191184
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922855
Samples
Known GenesAOX2P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555188
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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