A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551887



Internal ID22420791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124455067..124455067hg38UCSC Ensembl
chr8:125467308..125467308hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429655
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3551887
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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