A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198630



Internal ID22348330
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14389421, nssv14377714
SamplesHG00731, HG00733
Known GenesGBP4, GBP7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198630
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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