A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14387903



Internal ID22258288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39291894..39292501hg38UCSC Ensembl
chr17:37448147..37448754hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529520
Supporting Variants
SamplesNA19238
Known GenesFBXL20
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14387903
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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