A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17045740



Internal ID98259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46646724..46648313hg38UCSC Ensembl
chr11:46668274..46669863hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381590
hg191590
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495044
Supporting Variants
Samples
Known GenesATG13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17045740
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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