A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5654360



Internal ID21602665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45477177..45477177hg38UCSC Ensembl
chr17:43554543..43554543hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17095779
SamplesHG00731
Known GenesPLEKHM1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5654360
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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