A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446679



Internal ID22242372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43105474..43105474hg38UCSC Ensembl
chr18:40685439..40685439hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3555216
Supporting Variants
SamplesHG00733
Known GenesRIT2
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)nssv14446679
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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