A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5622404



Internal ID21570709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56731592..56731592hg38UCSC Ensembl
chr3:56765620..56765620hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38605
hg19605
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17122382
SamplesHG00731
Known GenesARHGEF3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5622404
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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