A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548783



Internal ID22417734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67499581..67499581hg38UCSC Ensembl
chr11:67267052..67267052hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14414432
SamplesHG00514
Known GenesPITPNM1
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)nsv3548783
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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