A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552193



Internal ID22421091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:20225560..20225560hg38UCSC Ensembl
chr9:20225558..20225558hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14402550, nssv14429789
SamplesNA19240, HG00514
Known Genes
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)nsv3552193
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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