A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532052



Internal ID307983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81830062..81831658hg38UCSC Ensembl
chr17:79787938..79789534hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381597
hg191597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715615
Samples
Known GenesFAM195B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532052
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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