A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421823



Internal ID200885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20653605..20653608hg38UCSC Ensembl
chr13:21227744..21227747hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685970
Samples
Known GenesIFT88
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421823
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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