A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417444



Internal ID22153655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112199134..112199191hg38UCSC Ensembl
chr13:112853448..112853505hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197284
Supporting Variants
SamplesHG00514
Known GenesLINC01070
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14417444
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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