A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5998009



Internal ID21907352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55960954..55961789hg38UCSC Ensembl
chr4:56827120..56827955hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38836
hg19836
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17539148
Samples
Known GenesCEP135
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5998009
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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