A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474422



Internal ID252082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:74139417..74141197hg38UCSC Ensembl
chr10:75899175..75900955hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg381781
hg191781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17037005
Samples
Known GenesAP3M1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474422
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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