A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543396



Internal ID22412453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:36670778..36670778hg38UCSC Ensembl
chr9:36670775..36670775hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404095
SamplesNA19240
Known GenesMELK
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3543396
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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