A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193962



Internal ID22344343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:154631676..154632867hg38UCSC Ensembl
chr4:155552828..155554019hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg381192
hg191192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14319048, nssv14319051, nssv14319049, nssv14319050, nssv14319055, nssv14319052, nssv14319053, nssv14319054, nssv14319056
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193962
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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