A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545438



Internal ID22414447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:121651145..121651145hg38UCSC Ensembl
chr8:122663385..122663385hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429322, nssv14401762
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3545438
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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