A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554850



Internal ID328022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93987281..93988957hg38UCSC Ensembl
chr13:94639535..94641211hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg381677
hg191677
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694434
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554850
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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