A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934741



Internal ID22710072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60957419..61196857hg38UCSC Ensembl
chr17:59034780..59274218hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38239439
hg19239439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17385526
Samples
Known GenesBCAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934741
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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