A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14418330



Internal ID22154952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2787287..2787287hg38UCSC Ensembl
chr16:2837288..2837288hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557020
Supporting Variants
SamplesHG00514
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)nssv14418330
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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