A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200306



Internal ID22349777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141442513..141443606hg38UCSC Ensembl
chr3:141161355..141162448hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg381094
hg191094
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309559, nssv14309560, nssv14309565, nssv14309563, nssv14309558, nssv14309557, nssv14309561, nssv14309562, nssv14309564
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesZBTB38
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200306
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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