A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296416



Internal ID22185233
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562322
Supporting Variants
SamplesHG00731
Known GenesUBE2E3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296416
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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