A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918880



Internal ID13362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:136059127..136059208hg38UCSC Ensembl
chr2:136816697..136816778hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436592
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918880
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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