A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967770



Internal ID22742706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38854386..38854386hg38UCSC Ensembl
chr12:39248188..39248188hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363045
Samples
Known GenesCPNE8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967770
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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