A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17034485



Internal ID90686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:45704265..45734265hg38UCSC Ensembl
chr10:46199713..46229713hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3830001
hg1930001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143289
Supporting Variants
Samples
Known GenesFAM21C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17034485
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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