A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6082299



Internal ID21991532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103757030..103757030hg38UCSC Ensembl
chr12:104150808..104150808hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17617489
Samples
Known GenesSTAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6082299
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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