A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16982752



Internal ID55862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:65288169..65378351hg38UCSC Ensembl
chr6:65998062..66088244hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3890183
hg1990183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458610
Supporting Variants
Samples
Known GenesEYS, LOC441155
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16982752
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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