A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4391840



Internal ID21382870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61067317..61070366hg38UCSC Ensembl
chr17:59144678..59147727hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg383050
hg193050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15706191
Samples
Known GenesBCAS3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4391840
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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