A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190107



Internal ID20757147
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 StatusS
Merged Variantsnsv6506365
Supporting Variants
Samples
Known GenesEFCAB5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190107
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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