A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14298840



Internal ID22139895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241522582..241533595hg38UCSC Ensembl
chr2:242461997..242473010hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3811014
hg1911014
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209015
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14298840
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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