A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1385n223



Internal ID22804353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8208801..8230400hg38UCSC Ensembl
chr12:8361397..8382996hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3821600
hg1921600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6465782, nsv6455845, nsv6472933, nsv6472866
Samples
Known GenesFAM90A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1385n223
Frequency
Sample Size19652
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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