A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6511448



Internal ID20884776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28997273..29001907hg38UCSC Ensembl
chr17:27324291..27328925hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg384635
hg194635
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178257
Samples
Known GenesSEZ6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6511448
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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