A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285124



Internal ID22383498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:28430923..28431129hg38UCSC Ensembl
chr11:28452470..28452676hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1309n152
Supporting Variantsnssv14415764
SamplesHG00514
Known Genes
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)nsv3285124
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