A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210291



Internal ID22358234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50678804..50686878hg38UCSC Ensembl
chr22:51117232..51125306hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg388075
hg198075
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5824n152
Supporting Variantsnssv14434562
SamplesHG00514
Known GenesSHANK3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210291
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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