A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646118



Internal ID21594423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39153279..39153279hg38UCSC Ensembl
chr19:39643919..39643919hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17104699
SamplesHG00732
Known GenesPAK4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646118
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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