A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969098



Internal ID46723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127826123..127826210hg38UCSC Ensembl
chr6:128147268..128147355hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466712
Supporting Variants
Samples
Known GenesTHEMIS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969098
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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