A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17630293



Internal ID21822340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13749127..14824885hg38UCSC Ensembl
chr18:13749126..14824884hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381075759
hg191075759
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6040231
Supporting Variants
Samples
Known GenesANKRD20A5P, ANKRD30B, CXADRP3, CYP4F35P, MC2R, MC5R, POTEC, RNMT, ZNF519
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17630293
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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