A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179791



Internal ID20746831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10606310..10712065hg38UCSC Ensembl
chr17:10509627..10615382hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38105756
hg19105756
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6500836
Supporting Variants
Samples
Known GenesADPRM, MYH3, SCO1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179791
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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