A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911029



Internal ID8121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25860227..25863354hg38UCSC Ensembl
chr2:26083096..26086223hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383128
hg193128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453320
Supporting Variants
Samples
Known GenesASXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911029
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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