A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456739



Internal ID234800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112075001..112075106hg38UCSC Ensembl
chr6:112396204..112396309hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986441
Samples
Known GenesTUBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456739
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer