A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375997



Internal ID22318558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26122912..26122912hg38UCSC Ensembl
chr13:26697050..26697050hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3554023
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375997
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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