A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380563



Internal ID22141112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58505537..58508194hg38UCSC Ensembl
chr17:56582898..56585555hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg382658
hg192658
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224533
Supporting Variants
SamplesHG00513
Known GenesMTMR4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14380563
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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