A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563255



Internal ID22431995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179962014..179962014hg38UCSC Ensembl
chr3:179679802..179679802hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14310073, nssv14310069, nssv14310068, nssv14310071, nssv14310070, nssv14310067, nssv14310072
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesPEX5L
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3563255
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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