A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414258



Internal ID193541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14884769..14884820hg38UCSC Ensembl
chr12:15037703..15037754hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054259
Samples
Known GenesMGP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414258
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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