A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546376



Internal ID22415365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:112138240..112138240hg38UCSC Ensembl
chr9:114900520..114900520hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404222, nssv14428897
SamplesNA19240, HG00514
Known GenesMIR3134, SUSD1
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)nsv3546376
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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