A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17719518



Internal ID143184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74940580..74940817hg38UCSC Ensembl
chr18:72652536..72652773hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531199
Supporting Variants
Samples
Known GenesZNF407
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17719518
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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