A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562197



Internal ID22430957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180964379..180964379hg38UCSC Ensembl
chr2:181829106..181829106hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296414, nssv14296413, nssv14296415
SamplesNA19239, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562197
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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