A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467567



Internal ID245377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:84530130..84933630hg38UCSC Ensembl
chr6:85239848..85643348hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38403501
hg19403501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16985805
Samples
Known GenesTBX18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467567
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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