A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348516



Internal ID21006069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210223601..210229400hg38UCSC Ensembl
chr2:211088325..211094124hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg385800
hg195800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208128
Samples
Known GenesACADL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348516
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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