A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3946787



Internal ID21366856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:77267439..77267439hg38UCSC Ensembl
chr12:77661219..77661219hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15194003
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3946787
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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