A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562562



Internal ID22393675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240190673..240190673hg38UCSC Ensembl
chr2:241130090..241130090hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14298111, nssv14298110, nssv14298108, nssv14298109
SamplesHG00512, NA19238, HG00731, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562562
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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