A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6516453



Internal ID20889814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12883101..13674300hg38UCSC Ensembl
chr18:12883100..13674299hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38791200
hg19791200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180877
Samples
Known GenesCEP192, FAM210A, LDLRAD4, LDLRAD4-AS1, MIR4526, MIR5190, PTPN2, SEH1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6516453
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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