A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530259



Internal ID20903620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54076630..54265819hg38UCSC Ensembl
chr19:54579898..54769673hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38189190
hg19189776
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200241
Samples
Known GenesCNOT3, LENG1, LILRA6, LILRB3, LILRB5, MBOAT7, NDUFA3, OSCAR, PRPF31, RPS9, TARM1, TFPT, TMC4, TSEN34
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530259
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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