A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941257



Internal ID22716678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2152041..2152108hg38UCSC Ensembl
chr16:2202042..2202109hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375412
Samples
Known GenesRAB26
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941257
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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