A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545501



Internal ID22414509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142970296..142970296hg38UCSC Ensembl
chr8:144051713..144051713hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14460313, nssv14402199
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSee descriptions for individual calls in download files
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3545501
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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