A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14331719



Internal ID22283392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116668875..116669427hg38UCSC Ensembl
chr6:116990038..116990590hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38553
hg19553
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193615
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14331719
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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