A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14304384



Internal ID22119415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44054879..44060208hg38UCSC Ensembl
chr22:44450759..44456088hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg385330
hg195330
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211049
Supporting Variants
SamplesHG00512
Known GenesPARVB
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14304384
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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