A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14398126



Internal ID22303955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:266914..266914hg38UCSC Ensembl
chr5:267029..267029hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381033
hg191033
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3531388
Supporting Variants
SamplesNA19240
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)nssv14398126
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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