A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561168



Internal ID22429954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5411652..5411652hg38UCSC Ensembl
chr18:5411651..5411651hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14285037, nssv14285036
SamplesNA19238, NA19240
Known GenesEPB41L3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561168
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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