A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2791283



Internal ID21236621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46975843..46975843hg38UCSC Ensembl
chr12:47369626..47369626hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381046
hg191046
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13698443
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2791283
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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