A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225127



Internal ID22368350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45595639..45595933hg38UCSC Ensembl
chr22:45991519..45991813hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14305143, nssv14305142
SamplesHG00512, HG00514
Known GenesFBLN1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225127
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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