A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522680



Internal ID298942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:25011509..25013420hg38UCSC Ensembl
chr16:25022830..25024741hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381912
hg191912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706598
Samples
Known GenesARHGAP17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522680
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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