A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194648



Internal ID22344938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33320393..33324780hg38UCSC Ensembl
chr21:34692698..34697085hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg384388
hg194388
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5510n152
Supporting Variantsnssv14433313, nssv14433314
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)nsv3194648
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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