A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512330



Internal ID288885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31593925..31599964hg38UCSC Ensembl
chr12:31746859..31752898hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg386040
hg196040
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057155
Samples
Known GenesDENND5B-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512330
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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