A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407700



Internal ID187031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207172426..207172477hg38UCSC Ensembl
chr2:208037150..208037201hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924741
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407700
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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