A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14452142



Internal ID22247090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193362775..193362775hg38UCSC Ensembl
chr3:193080564..193080564hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535871
Supporting Variants
SamplesHG00733
Known GenesATP13A5
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)nssv14452142
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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