A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565245



Internal ID22433966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53468966..53468966hg38UCSC Ensembl
chr8:54381526..54381526hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342536, nssv14342538, nssv14342535, nssv14342533, nssv14342531, nssv14342534, nssv14342530, nssv14342537, nssv14342532
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3565245
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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