A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462903



Internal ID21120456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88100060..88119525hg38UCSC Ensembl
chr12:88493837..88513302hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3819466
hg1919466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183288
Samples
Known GenesCEP290
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462903
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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