A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472766



Internal ID250469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5692433..5706702hg38UCSC Ensembl
chr6:5692666..5706935hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3814270
hg1914270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978479
Samples
Known GenesFARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472766
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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