A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928194



Internal ID19494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215383859..215383910hg38UCSC Ensembl
chr2:216248582..216248633hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409034
Supporting Variants
Samples
Known GenesFN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928194
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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