A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969570



Internal ID47025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:123337150..123454650hg38UCSC Ensembl
chr6:123658295..123775795hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38117501
hg19117501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468677
Supporting Variants
Samples
Known GenesTRDN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969570
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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