A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483982



Internal ID21141535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110783814..110788375hg38UCSC Ensembl
chr12:111221619..111226180hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg384562
hg194562
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187367
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483982
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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