A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436213



Internal ID214834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26586973..26599373hg38UCSC Ensembl
chr2:26809841..26822241hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3812401
hg1912401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911040
Samples
Known GenesCIB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436213
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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