A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931346



Internal ID22706629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37323443..37324255hg38UCSC Ensembl
chr18:34903406..34904218hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38813
hg19813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380652
Samples
Known GenesCELF4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931346
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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