A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178819



Internal ID22335213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133624759..133627237hg38UCSC Ensembl
chr5:132960450..132962928hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382479
hg192479
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7528n152
Supporting Variantsnssv14410681, nssv14410682
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)nsv3178819
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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