A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436299



Internal ID214918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86055590..86283810hg38UCSC Ensembl
chr2:86282713..86510933hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38228221
hg19228221
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915935
Samples
Known GenesIMMT, MIR4779, MRPL35, POLR1A, PTCD3, REEP1, SNORD94
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436299
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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