A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391343



Internal ID22143336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45938101..45962750hg38UCSC Ensembl
chr17:44015467..44040116hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3824650
hg1924650
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225857
Supporting Variants
SamplesHG00513
Known GenesMAPT
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14391343
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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