A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145912



Internal ID345117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28386443..28417243hg38UCSC Ensembl
chr16:28397764..28428564hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3830801
hg1930801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706322
Samples
Known GenesEIF3C, EIF3CL, MIR6862-1, MIR6862-2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145912
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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