A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16986032



Internal ID58107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56711887..56716948hg38UCSC Ensembl
chr6:56576685..56581746hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg385062
hg195062
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460231
Supporting Variants
Samples
Known GenesDST, RNU6-71P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16986032
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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