A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561007



Internal ID22429801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48766875..48766875hg38UCSC Ensembl
chr18:46293246..46293246hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14284107, nssv14284108, nssv14284110, nssv14284109, nssv14284106
SamplesHG00512, NA19238, HG00731, HG00513, HG00514
Known GenesCTIF
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561007
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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