A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285041



Internal ID22383413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76718675..76718841hg38UCSC Ensembl
chr11:76429719..76429885hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1473n152
Supporting Variantsnssv14443390
SamplesHG00733
Known GenesGUCY2EP
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3285041
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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