A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547710



Internal ID321530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:115903195..115903227hg38UCSC Ensembl
chr6:116224359..116224391hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986494
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547710
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