A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690067



Internal ID113733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95797790..95797790hg38UCSC Ensembl
chr12:96191568..96191568hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535478
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690067
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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