A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3933619



Internal ID21353688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59482875..59482875hg38UCSC Ensembl
chr18:57150107..57150107hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15185909
SamplesHG002
Known GenesCCBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3933619
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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