A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463461



Internal ID241364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53943019..53943138hg38UCSC Ensembl
chr6:53807817..53807936hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982628
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463461
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