A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555468



Internal ID22424311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53468965..53468965hg38UCSC Ensembl
chr8:54381525..54381525hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14402364
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3555468
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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