A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924249



Internal ID16936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134819618..134827618hg38UCSC Ensembl
chr2:135577188..135585188hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441111
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924249
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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