A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14386882



Internal ID22302457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80180309..80180309hg38UCSC Ensembl
chr12:80574089..80574089hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551244
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14386882
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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