A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14428897



Internal ID22170353
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 StatusS
Merged Variantsnsv3546376
Supporting Variants
SamplesHG00514
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)nssv14428897
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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