A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229600



Internal ID22371398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49922890..49922949hg38UCSC Ensembl
chr22:50316538..50316597hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5812n152
Supporting Variantsnssv14410181
SamplesNA19240
Known GenesCRELD2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229600
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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