A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539086



Internal ID314083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172153284..172153284hg38UCSC Ensembl
chr5:171580288..171580288hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976713
Samples
Known GenesSTK10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539086
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