A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348579



Internal ID21006132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214281645..214304866hg38UCSC Ensembl
chr2:215146369..215169590hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3823222
hg1923222
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208170
Samples
Known GenesSPAG16
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348579
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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