A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289818



Internal ID22278885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162402462..162402961hg38UCSC Ensembl
chr1:162372252..162372751hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200065
Supporting Variants
SamplesNA19239
Known GenesSH2D1B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289818
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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