A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186735



Internal ID20753775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47559316..47587912hg38UCSC Ensembl
chr11:47580868..47609464hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3828597
hg1928597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470626
Supporting Variants
Samples
Known GenesFAM180B, KBTBD4, NDUFS3, PTPMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186735
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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