A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553873



Internal ID327077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42277898..42277898hg38UCSC Ensembl
chr6:42245636..42245636hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981613
Samples
Known GenesTRERF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553873
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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