A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16913451



Internal ID9713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54779529..54913117hg38UCSC Ensembl
chr2:55006666..55140254hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38133589
hg19133589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452935
Supporting Variants
Samples
Known GenesEML6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16913451
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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