A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14382966



Internal ID22324111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:32154880..32154880hg38UCSC Ensembl
chr15:32447081..32447081hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3550764
Supporting Variants
SamplesNA19240
Known GenesCHRNA7
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)nssv14382966
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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