A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17043627



Internal ID96813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:16052170..16054511hg38UCSC Ensembl
chr11:16073716..16076057hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg382342
hg192342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511642
Supporting Variants
Samples
Known GenesSOX6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17043627
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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