A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6099344



Internal ID22008577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5394166..5394166hg38UCSC Ensembl
chr12:5503332..5503332hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381176
hg191176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17615453
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6099344
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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