A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543316



Internal ID22412377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:43145009..43145009hg38UCSC Ensembl
chr9:42840237..42840237hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3831939
hg1931939
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14457465
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)nsv3543316
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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