A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226641



Internal ID22369373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70239244..70245569hg38UCSC Ensembl
chr9:72854160..72860485hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg386326
hg196326
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14347580, nssv14347581, nssv14347582
SamplesNA19238, NA19240, HG00513
Known GenesSMC5-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226641
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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