A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282448



Internal ID22220313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78351025..78351257hg38UCSC Ensembl
chr17:76347106..76347338hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220764
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282448
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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