A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054259



Internal ID104002
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 StatusS
Merged Variantsnsv5414258
Supporting Variants
Samples
Known GenesMGP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054259
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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