A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211710



Internal ID22359183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28917333..28918455hg38UCSC Ensembl
chr17:27244351..27245473hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381123
hg191123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14375177, nssv14390690, nssv14381659, nssv14384694, nssv14386385, nssv14373717, nssv14382557, nssv14387939, nssv14373406
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPHF12
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211710
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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