A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496010



Internal ID20869208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28821785..28825504hg38UCSC Ensembl
chr17:27148803..27152522hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg383720
hg193720
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184643
Samples
Known GenesFAM222B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6496010
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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