A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16991074



Internal ID61459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:168612000..168617393hg38UCSC Ensembl
chr6:169012680..169018073hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg385394
hg195394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142592
Supporting Variants
Samples
Known GenesSMOC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16991074
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007403


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