A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472492



Internal ID250198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170318645..170330559hg38UCSC Ensembl
chr6:170627733..170639647hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3811915
hg1911915
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16991332
Samples
Known GenesFAM120B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472492
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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