A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212090



Internal ID22359442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18052988..18053148hg38UCSC Ensembl
chr22:18535754..18535914hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14303050, nssv14303049, nssv14303048
SamplesHG00731, HG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212090
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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