A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447859



Internal ID22223458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79146458..79146458hg38UCSC Ensembl
chr18:76906458..76906458hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38768
hg19768
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3548711
Supporting Variants
SamplesHG00733
Known GenesATP9B
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)nssv14447859
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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