A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210956



Internal ID22358674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30364352..30364850hg38UCSC Ensembl
chr17:28691370..28691868hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14383523, nssv14391036
SamplesNA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210956
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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