A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16950116



Internal ID34096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55960977..55961725hg38UCSC Ensembl
chr4:56827143..56827891hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38749
hg19749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470117
Supporting Variants
Samples
Known GenesCEP135
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16950116
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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