A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377873



Internal ID22312838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:59645334..59645334hg38UCSC Ensembl
chr11:59412807..59412807hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3550823
Supporting Variants
SamplesNA19240
Known GenesPATL1
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)nssv14377873
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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