A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514565



Internal ID291062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79795980..79796034hg38UCSC Ensembl
chr17:77769779..77769833hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714948
Samples
Known GenesCBX8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514565
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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