A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918565



Internal ID13145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103632890..103640991hg38UCSC Ensembl
chr2:104249348..104257449hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg388102
hg198102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453577
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918565
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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