A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466320



Internal ID22218577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:111151676..111151729hg38UCSC Ensembl
chr2:111909253..111909306hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3186460
Supporting Variants
SamplesHG00733
Known GenesBCL2L11
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14466320
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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