A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216963



Internal ID22362783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:42234537..42251312hg38UCSC Ensembl
chr9:40751236..40769948hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3816776
hg1918713
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14345296, nssv14345294, nssv14345292, nssv14345299, nssv14345297, nssv14345298, nssv14345293, nssv14345300, nssv14345295
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)nsv3216963
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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