A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545723



Internal ID319739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135045938..135045975hg38UCSC Ensembl
chr2:135803508..135803545hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919688
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545723
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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