A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229045



Internal ID22371024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45870201..45881750hg38UCSC Ensembl
chr17:43947567..43959116hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3811550
hg1911550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388432, nssv14391181, nssv14381868, nssv14384412, nssv14386096, nssv14380191, nssv14390762, nssv14389478, nssv14380892
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMAPT-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229045
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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