A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6459055



Internal ID21116608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51329237..51330953hg38UCSC Ensembl
chr12:51723021..51724737hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381717
hg191717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179140
Samples
Known GenesCELA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6459055
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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