A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16985956



Internal ID58052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55074457..55074556hg38UCSC Ensembl
chr6:54939255..54939354hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457100
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16985956
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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