A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420484



Internal ID199586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24951696..24951747hg38UCSC Ensembl
chr16:24963017..24963068hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706594
Samples
Known GenesARHGAP17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420484
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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