A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5645967



Internal ID21594272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48530021..48530021hg38UCSC Ensembl
chr15:48822218..48822218hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17088075
SamplesHG00512
Known GenesFBN1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5645967
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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