A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218616



Internal ID22363904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70385158..70386361hg38UCSC Ensembl
chr9:73000074..73001277hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg381204
hg191204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14347591, nssv14347586, nssv14347590, nssv14347587, nssv14347585, nssv14347592, nssv14347589, nssv14347584, nssv14347588
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKLF9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218616
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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