A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226680



Internal ID22369397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75437505..75437902hg38UCSC Ensembl
chr17:73433586..73433983hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281774
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226680
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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