A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414065



Internal ID193350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110215908..110215959hg38UCSC Ensembl
chr12:110653713..110653764hg19UCSC Ensembl
Cytoband12q24.11
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 Variantsnssv17684414
Samples
Known GenesIFT81
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414065
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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