A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969448



Internal ID46951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131075899..131086050hg38UCSC Ensembl
chr6:131397039..131407190hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3810152
hg1910152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457187
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969448
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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