A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969406



Internal ID46922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129797808..129803253hg38UCSC Ensembl
chr6:130118953..130124398hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg385446
hg195446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456329
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969406
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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