A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289479



Internal ID22215307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156247751..156248950hg38UCSC Ensembl
chr1:156217542..156218741hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207115
Supporting Variants
SamplesHG00733
Known GenesPAQR6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289479
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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