A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540472



Internal ID22409610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143568220..143568220hg38UCSC Ensembl
chr5:142947785..142947785hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14452981
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3540472
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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