A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3927932



Internal ID21348001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12980714..12980840hg38UCSC Ensembl
chr18:12980713..12980839hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15175785
SamplesHG002
Known GenesSEH1L
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3927932
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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