A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216975



Internal ID22362795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43369211..43369309hg38UCSC Ensembl
chr18:40949176..40949274hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3830n152
Supporting Variantsnssv14283942, nssv14283943, nssv14283946, nssv14283945, nssv14283947, nssv14283944
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216975
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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