A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16960290



Internal ID40828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185447190..185601381hg38UCSC Ensembl
chr4:186368344..186522535hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38154192
hg19154192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461333
Supporting Variants
Samples
Known GenesC4orf47, CCDC110, PDLIM3, SORBS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16960290
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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