A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1681n223



Internal ID22804649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105100001..105111600hg38UCSC Ensembl
chr12:105493779..105505378hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3811600
hg1911600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6467045, nsv6471234
Samples
Known GenesKIAA1033
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1681n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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