A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193572



Internal ID22344005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40440387..40440610hg38UCSC Ensembl
chr21:41812314..41812537hg19UCSC 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 Variantsnssv14407698
SamplesNA19240
Known GenesDSCAM
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193572
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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