A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911145



Internal ID8197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20396973..20396973hg38UCSC Ensembl
chr2:20596734..20596734hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552542
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911145
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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