A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184227



Internal ID20751267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27790196..27791638hg38UCSC Ensembl
chr17:26117222..26118664hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381443
hg191443
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6513707
Supporting Variants
Samples
Known GenesNOS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184227
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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