A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918353



Internal ID13000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118039854..118039949hg38UCSC Ensembl
chr2:118797430..118797525hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452948
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918353
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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