A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555385



Internal ID22424227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119644290..119644290hg38UCSC Ensembl
chr11:119515000..119515000hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381180
hg191180
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416006
SamplesHG00514
Known GenesPVRL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3555385
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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