A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501234



Internal ID278139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:16200228..16201064hg38UCSC Ensembl
chr11:16221774..16222610hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38837
hg19837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042956
Samples
Known GenesSOX6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501234
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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