A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17042546



Internal ID96075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:22056378..22457448hg38UCSC Ensembl
chr11:22077924..22478994hg19UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg38401071
hg19401071
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504472
Supporting Variants
Samples
Known GenesANO5, SLC17A6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17042546
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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