A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526226



Internal ID22395606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119525206..119525568hg38UCSC Ensembl
chr2:120282782..120283144hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14293663, nssv14293657, nssv14293660, nssv14293659, nssv14293656, nssv14293662, nssv14293658, nssv14293661
SamplesHG00512, 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)nsv3526226
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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