A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16921390



Internal ID15026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162208787..162284499hg38UCSC Ensembl
chr2:163065297..163141009hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3875713
hg1975713
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443984
Supporting Variants
Samples
Known GenesFAP, IFIH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16921390
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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