A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14376653



Internal ID22208202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32907037..32916249hg38UCSC Ensembl
chr17:31234055..31243267hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg389213
hg199213
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216682
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14376653
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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