A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053059



Internal ID103220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10727278..10727314hg38UCSC Ensembl
chr12:10879877..10879913hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539411
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053059
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007961


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