A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14304445



Internal ID22139693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44904503..44904871hg38UCSC Ensembl
chr22:45300383..45300751hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3541304
Supporting Variants
SamplesHG00513
Known GenesPHF21B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14304445
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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