A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6511001



Internal ID20884325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31447581..31449597hg38UCSC Ensembl
chr17:29774599..29776615hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382017
hg192017
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188971
Samples
Known GenesRAB11FIP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6511001
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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