A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562676



Internal ID22431422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42044175..42044175hg38UCSC Ensembl
chr2:42271315..42271315hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14292534, nssv14292535, nssv14292536
SamplesHG00731, HG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562676
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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