A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5592848



Internal ID21541433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67967722..67969633hg38UCSC Ensembl
chr17:65963838..65965749hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg381912
hg191912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17080642
SamplesHG02818
Known GenesBPTF
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5592848
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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