A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5658939



Internal ID21607244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19197692..19197692hg38UCSC Ensembl
chr12:19350626..19350626hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079326
SamplesHG03683
Known GenesPLEKHA5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5658939
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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