A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390746



Internal ID22304490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:99838952..99838952hg38UCSC Ensembl
chr10:101598709..101598709hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3553751
Supporting Variants
SamplesNA19240
Known GenesABCC2
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)nssv14390746
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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