A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418095



Internal ID197276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22063681..22063732hg38UCSC Ensembl
chr12:22216615..22216666hg19UCSC Ensembl
Cytoband12p12.1
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 Variantsnssv17688496
Samples
Known GenesCMAS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418095
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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