A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472692



Internal ID250398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111210718..111215707hg38UCSC Ensembl
chr6:111531921..111536910hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384990
hg194990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988744
Samples
Known GenesSLC16A10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472692
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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