A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399594



Internal ID22308136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:139516056..139518916hg38UCSC Ensembl
chr6:139837193..139840053hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg382861
hg192861
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189078
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14399594
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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