A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924031



Internal ID16776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128197987..128198294hg38UCSC Ensembl
chr2:128955561..128955868hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445046
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924031
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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