A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343164



Internal ID21000717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177258801..177268400hg38UCSC Ensembl
chr2:178123529..178133128hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg389600
hg199600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208046
Samples
Known GenesNFE2L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343164
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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