A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282614



Internal ID22187461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:72738124..72740221hg38UCSC Ensembl
chr17:70734263..70736360hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg382098
hg192098
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218206
Supporting Variants
SamplesHG00731
Known GenesSLC39A11
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282614
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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