A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14382200



Internal ID22325722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120733309..120733309hg38UCSC Ensembl
chr10:122492821..122492821hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557222
Supporting Variants
SamplesNA19240
Known GenesMIR5694
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)nssv14382200
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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