A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17088075



Internal ID21404929
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 StatusS
Merged Variantsnsv5645967
Supporting Variants
SamplesHG00512
Known GenesFBN1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17088075
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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