A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301572



Internal ID22122771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17718417..17720049hg38UCSC Ensembl
chr21:19090735..19092367hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381633
hg191633
Variant TypeOTHER copy number variation
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190631
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301572
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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