A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14398747



Internal ID22330286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178338611..178338611hg38UCSC Ensembl
chr5:177765612..177765612hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539701
Supporting Variants
SamplesNA19240
Known GenesCOL23A1
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)nssv14398747
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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