A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390690



Internal ID22268906
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211710
Supporting Variants
SamplesNA19238
Known GenesPHF12
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14390690
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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