A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923720



Internal ID16575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201649160..201654261hg38UCSC Ensembl
chr2:202513883..202518984hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385102
hg195102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443826
Supporting Variants
Samples
Known GenesMPP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923720
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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