A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451637



Internal ID229814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86729909..86949619hg38UCSC Ensembl
chr2:86957032..87176742hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38219711
hg19219711
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915221
Samples
Known GenesANAPC1P1, CD8A, CD8B, RGPD1, RGPD2, RMND5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451637
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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