A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529758



Internal ID22399149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51348686..51348848hg38UCSC Ensembl
chr13:51922822..51922984hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14368472, nssv14368473, nssv14368471
SamplesNA19238, NA19239, NA19240
Known GenesSERPINE3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529758
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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