A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472943



Internal ID250645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170343278..170344478hg38UCSC Ensembl
chr6:170652366..170653566hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16991335
Samples
Known GenesFAM120B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472943
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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