A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143311



Internal ID342512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113202128..113214128hg38UCSC Ensembl
chr12:113639933..113651933hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3812001
hg1912001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690713
Samples
Known GenesIQCD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143311
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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