A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14428579



Internal ID22169886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69230795..69230795hg38UCSC Ensembl
chr8:70143030..70143030hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3553221
Supporting Variants
SamplesHG00514
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)nssv14428579
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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