A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14335449



Internal ID22283897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13229900..13376234hg38UCSC Ensembl
chr1:13335480..13702693hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38146335
hg19367214
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199660
Supporting Variants
SamplesNA19239
Known GenesPRAMEF13, PRAMEF15, PRAMEF16, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21, PRAMEF23, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14335449
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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