A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912681



Internal ID9198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47894876..47901140hg38UCSC Ensembl
chr2:48122015..48128279hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg386265
hg196265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438049
Supporting Variants
Samples
Known GenesFBXO11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912681
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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