A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17046509



Internal ID98815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60997232..61005879hg38UCSC Ensembl
chr11:60764704..60773351hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg388648
hg198648
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499775
Supporting Variants
Samples
Known GenesCD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17046509
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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