A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058611



Internal ID106935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51639883..51650576hg38UCSC Ensembl
chr12:52033667..52044360hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3810694
hg1910694
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144158
Supporting Variants
Samples
Known GenesSCN8A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058611
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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