A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983718



Internal ID56521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40275208..40280851hg38UCSC Ensembl
chr6:40242947..40248590hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg385644
hg195644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472659
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983718
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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