A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5599067



Internal ID21547700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30187967..30188530hg38UCSC Ensembl
chr16:30199288..30199851hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38564
hg19564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17082624
SamplesHG00512
Known GenesCORO1A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5599067
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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