A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448079



Internal ID226364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233081736..233081797hg38UCSC Ensembl
chr2:233946446..233946507hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925119
Samples
Known GenesINPP5D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448079
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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