A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6456694



Internal ID21114247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48635965..48637208hg38UCSC Ensembl
chr12:49029748..49030991hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381244
hg191244
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178965
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6456694
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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