A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14461902



Internal ID22214480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17811089..17813376hg38UCSC Ensembl
chr5:17811198..17813485hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg382288
hg192288
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3185670
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14461902
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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