A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447330



Internal ID22242941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80025055..80025055hg38UCSC Ensembl
chr17:77998854..77998854hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3549965
Supporting Variants
SamplesHG00733
Known GenesTBC1D16
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)nssv14447330
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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