A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16960280



Internal ID40822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185371381..185447381hg38UCSC Ensembl
chr4:186292535..186368535hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3876001
hg1976001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456236
Supporting Variants
Samples
Known GenesANKRD37, C4orf47, CCDC110, LRP2BP, UFSP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16960280
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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