A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555734



Internal ID328884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11716365..11719484hg38UCSC Ensembl
chr8:11573874..11576993hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383120
hg193120
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17008312
Samples
Known GenesGATA4
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555734
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