A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389421



Internal ID22196822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89133299..89186374hg38UCSC Ensembl
chr1:89598982..89652057hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3853076
hg1953076
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198630
Supporting Variants
SamplesHG00731
Known GenesGBP4, GBP7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14389421
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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