A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918525



Internal ID13118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99574346..99574382hg38UCSC Ensembl
chr2:100190808..100190844hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543139
Supporting Variants
Samples
Known GenesAFF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918525
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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