A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906064



Internal ID22681258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178226268..178226317hg38UCSC Ensembl
chr2:179090995..179091044hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395311
Samples
Known GenesOSBPL6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906064
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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