A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14418308



Internal ID22154915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1191736..1191736hg38UCSC Ensembl
chr16:1241736..1241736hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3546279
Supporting Variants
SamplesHG00514
Known GenesCACNA1H
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)nssv14418308
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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