A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911040



Internal ID8131
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 StatusS
Merged Variantsnsv5436213
Supporting Variants
Samples
Known GenesCIB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911040
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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