A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554093



Internal ID22422962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135847894..135847894hg38UCSC Ensembl
chr9:138739740..138739740hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14403314
SamplesNA19240
Known GenesCAMSAP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3554093
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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