A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342015



Internal ID22141980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:88112111..88114012hg38UCSC Ensembl
chr8:89124340..89126241hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381902
hg191902
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229273
Supporting Variants
SamplesHG00513
Known GenesMMP16
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14342015
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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