A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414996



Internal ID194261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27979535..27979586hg38UCSC Ensembl
chr13:28553672..28553723hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686449
Samples
Known GenesURAD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414996
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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