A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058458



Internal ID106830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45374128..45396128hg38UCSC Ensembl
chr12:45767911..45789911hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3822001
hg1922001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509457
Supporting Variants
Samples
Known GenesANO6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058458
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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