A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380259



Internal ID22141014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42597634..42597999hg38UCSC Ensembl
chr17:40749652..40750017hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223470
Supporting Variants
SamplesHG00513
Known GenesFAM134C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14380259
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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