A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5653721



Internal ID21602026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6069986..6069986hg38UCSC Ensembl
chr19:6069997..6069997hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107036
SamplesHG00731
Known GenesRFX2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5653721
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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