A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404201



Internal ID183557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135227044..135227095hg38UCSC Ensembl
chr5:134562734..134562785hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975094
Samples
Known GenesC5orf66
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404201
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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