A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5633927



Internal ID21582232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73643943..73643943hg38UCSC Ensembl
chr5:72939768..72939768hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17150603
SamplesHG00512
Known GenesARHGEF28
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5633927
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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