A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977783



Internal ID52581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180443800..180540225hg38UCSC Ensembl
chr5:179870800..179967225hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3896426
hg1996426
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462871
Supporting Variants
Samples
Known GenesCNOT6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977783
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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