A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6352365



Internal ID21009918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208356301..208366000hg38UCSC Ensembl
chr2:209221025..209230725hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg389700
hg199701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208112
Samples
Known GenesPIKFYVE, PTH2R
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6352365
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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