A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912060



Internal ID8796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32403832..33107416hg38UCSC Ensembl
chr2:32628900..33332483hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38703585
hg19703584
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451488
Supporting Variants
Samples
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912060
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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