A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717417



Internal ID141083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37371851..37371901hg38UCSC Ensembl
chr18:34951814..34951864hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553823
Supporting Variants
Samples
Known GenesCELF4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717417
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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