A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452968



Internal ID231109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226672991..226711806hg38UCSC Ensembl
chr2:227537707..227576522hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3838816
hg1938816
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924000
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452968
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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