A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968130



Internal ID22743065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74828748..74828748hg38UCSC Ensembl
chr18:72540704..72540704hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396033
Samples
Known GenesZNF407
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968130
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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