A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969580



Internal ID47034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:123483143..123483194hg38UCSC Ensembl
chr6:123804288..123804339hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453961
Supporting Variants
Samples
Known GenesTRDN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969580
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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