A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196812



Internal ID22346764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:137703656..137703793hg38UCSC Ensembl
chr6:138024793..138024930hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8121n152
Supporting Variantsnssv14330302, nssv14330301, nssv14330300
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196812
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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