A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940712



Internal ID22716124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3656772..3657641hg38UCSC Ensembl
chr18:3656772..3657641hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38870
hg19870
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373463
Samples
Known GenesDLGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940712
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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