A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918532



Internal ID13124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99698772..99719575hg38UCSC Ensembl
chr2:100315234..100336037hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3820804
hg1920804
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443384
Supporting Variants
Samples
Known GenesAFF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918532
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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