A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198301



Internal ID22348047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2076006..2076104hg38UCSC Ensembl
chr5:2076120..2076218hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14320712, nssv14320711
SamplesNA19238, NA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198301
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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