A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057117



Internal ID105920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30948943..30980443hg38UCSC Ensembl
chr12:31101877..31133378hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3831501
hg1931502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496928
Supporting Variants
Samples
Known GenesTSPAN11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057117
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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