A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414432



Internal ID22149846
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 StatusS
Merged Variantsnsv3548783
Supporting Variants
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)nssv14414432
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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