A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340123



Internal ID20997676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221301020..221306586hg38UCSC Ensembl
chr2:222165740..222171306hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg385567
hg195567
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205664
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340123
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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