A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511285



Internal ID287876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31571941..31579422hg38UCSC Ensembl
chr12:31724875..31732356hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg387482
hg197482
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057154
Samples
Known GenesDENND5B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511285
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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