A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969687



Internal ID47108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126848790..126854790hg38UCSC Ensembl
chr6:127169935..127175935hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463406
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969687
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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