A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341776



Internal ID22267688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47634228..47636816hg38UCSC Ensembl
chr8:48546790..48549378hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg382589
hg192589
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212236
Supporting Variants
SamplesNA19238
Known GenesSPIDR
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341776
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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