A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424635



Internal ID203617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56627048..56627099hg38UCSC Ensembl
chr16:56660960..56661011hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709428
Samples
Known GenesMT1E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424635
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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