A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508118



Internal ID284818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111692192..111693120hg38UCSC Ensembl
chr11:111562916..111563844hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38929
hg19929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688436
Samples
Known GenesSIK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508118
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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