A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14426859



Internal ID22167427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:48764598..48764870hg38UCSC Ensembl
chr6:48732235..48732507hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181920
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14426859
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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