A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199260



Internal ID20766300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111133301..111144200hg38UCSC Ensembl
chr1:111675923..111686822hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3810900
hg1910900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318000
Supporting Variants
Samples
Known GenesCEPT1, DRAM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199260
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00028


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