A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975684



Internal ID22750619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37470872..37470872hg38UCSC Ensembl
chr18:35050835..35050835hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372517
Samples
Known GenesCELF4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975684
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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