A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6506779



Internal ID20880064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12693100..12695129hg38UCSC Ensembl
chr16:12786957..12788986hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg382030
hg192030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18028722
Samples
Known GenesCPPED1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6506779
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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