A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047202



Internal ID99308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75224463..75334029hg38UCSC Ensembl
chr11:74935508..75045073hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38109567
hg19109566
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508437
Supporting Variants
Samples
Known GenesARRB1, TPBGL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047202
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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