A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14307043



Internal ID22274000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:79619066..79619066hg38UCSC Ensembl
chr3:79668216..79668216hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563139
Supporting Variants
SamplesNA19239
Known GenesROBO1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14307043
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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