A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253280



Internal ID22057890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206130041..206130041hg38UCSC Ensembl
chr2:206994765..206994765hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17851109
Samples
Known GenesNDUFS1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253280
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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