A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347366



Internal ID21004919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119274261..119274791hg38UCSC Ensembl
chr2:120031837..120032367hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38531
hg19531
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206549
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347366
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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