A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449966



Internal ID228186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108741299..108742089hg38UCSC Ensembl
chr2:109357755..109358545hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916507
Samples
Known GenesRANBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449966
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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