A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562322



Internal ID22431076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181016003..181016003hg38UCSC Ensembl
chr2:181880730..181880730hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296416, nssv14296417
SamplesHG00731, HG00733
Known GenesUBE2E3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562322
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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