A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549556



Internal ID323204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149803478..149803478hg38UCSC Ensembl
chr6:150124614..150124614hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989639
Samples
Known GenesPCMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549556
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