A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17600785



Internal ID21792832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48529929..48530026hg38UCSC Ensembl
chr15:48822126..48822223hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6027762
Supporting Variants
Samples
Known GenesFBN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17600785
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer