A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218388



Internal ID22363744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:111693966..111694043hg38UCSC Ensembl
chr9:114456246..114456323hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14349022, nssv14349025, nssv14349023, nssv14349024
SamplesHG00512, NA19238, HG00731, NA19240
Known GenesC9orf84
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218388
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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