A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456572



Internal ID22214654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:107079666..107079666hg38UCSC Ensembl
chr9:109841947..109841947hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3547868
Supporting Variants
SamplesHG00733
Known GenesMIR548Q
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)nssv14456572
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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