A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684225



Internal ID107891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95089979..95090018hg38UCSC Ensembl
chr12:95483755..95483794hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561721
Supporting Variants
Samples
Known GenesFGD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684225
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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