A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438933



Internal ID217483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206065240..206070447hg38UCSC Ensembl
chr2:206929964..206935171hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg385208
hg195208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922968
Samples
Known GenesINO80D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438933
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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