A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437954



Internal ID216529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66638584..66648885hg38UCSC Ensembl
chr2:66865716..66876017hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3810302
hg1910302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913948
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437954
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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