A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16913987



Internal ID10080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69485414..69497371hg38UCSC Ensembl
chr2:69712546..69724503hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3811958
hg1911958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449363
Supporting Variants
Samples
Known GenesAAK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16913987
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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