A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914808



Internal ID10618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:56511496..56590969hg38UCSC Ensembl
chr2:56738631..56818104hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3879474
hg1979474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435342
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914808
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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