A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423081



Internal ID202107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41467968..41468010hg38UCSC Ensembl
chr13:42042104..42042146hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687165
Samples
Known GenesRGCC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423081
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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