A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214307



Internal ID22360997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48797443..48797545hg38UCSC Ensembl
chr22:49193255..49193357hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14303458, nssv14303457, nssv14303459
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214307
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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