A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420306



Internal ID199411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68480353..68480404hg38UCSC Ensembl
chr12:68874133..68874184hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688823
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420306
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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