A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6506365



Internal ID20879644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29959405..29967725hg38UCSC Ensembl
chr17:28286423..28294743hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg388321
hg198321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18190107
Samples
Known GenesEFCAB5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6506365
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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