A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561486



Internal ID22430254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35954154..35954154hg38UCSC Ensembl
chr18:33534117..33534117hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283384, nssv14283382, nssv14283383
SamplesHG00512, NA19239, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561486
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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