A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5659210



Internal ID21607515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43780537..43780537hg38UCSC Ensembl
chr19:44284689..44284689hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17105252
SamplesHG00731
Known GenesKCNN4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5659210
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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