A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6092821



Internal ID22002054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100407138..100407138hg38UCSC Ensembl
chr12:100800916..100800916hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17616417
Samples
Known GenesSLC17A8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6092821
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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