A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14319048



Internal ID22118697
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 Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193962
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14319048
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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