A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5935258



Internal ID22710597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57469292..57469707hg38UCSC Ensembl
chr16:57503204..57503619hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380924
Samples
Known GenesPOLR2C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5935258
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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