A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223706



Internal ID22367395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:60829684..60914499hg38UCSC Ensembl
chr9:41415956..41500771hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3884816
hg1984816
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14346061, nssv14346065, nssv14346069, nssv14346062, nssv14346063, nssv14346064, nssv14346068, nssv14346067, nssv14346066
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSPATA31A5, SPATA31A7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223706
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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