A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969284



Internal ID46844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125272144..125272260hg38UCSC Ensembl
chr6:125593290..125593406hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467834
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969284
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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