A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5595717



Internal ID21544324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120494746..120497451hg38UCSC Ensembl
chr9:123257024..123259729hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg382706
hg192706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17159704
SamplesNA19239
Known GenesCDK5RAP2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5595717
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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