A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193615



Internal ID22344044
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14331720, nssv14331719
SamplesNA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193615
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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