A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201683



Internal ID22350948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40440327..40440550hg38UCSC Ensembl
chr21:41812254..41812477hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5535n152
Supporting Variantsnssv14459157, nssv14433588
SamplesHG00733, HG00514
Known GenesDSCAM
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201683
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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