A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434300



Internal ID212980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206134512..206135530hg38UCSC Ensembl
chr2:206999236..207000254hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381019
hg191019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922981
Samples
Known GenesNDUFS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434300
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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