A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526281



Internal ID22395661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216766041..216766166hg38UCSC Ensembl
chr2:217630764..217630889hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295981, nssv14295973, nssv14295980, nssv14295974, nssv14295979, nssv14295975, nssv14295976, nssv14295978, nssv14295977
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526281
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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