A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468677



Internal ID246473
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 StatusM
Merged Variants
Supporting Variantsnssv16969570
Samples
Known GenesTRDN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468677
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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