A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303536



Internal ID22164538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36958700..36959195hg38UCSC Ensembl
chr22:37354741..37355236hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225335
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14303536
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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