A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939478



Internal ID22714872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10534073..10551799hg38UCSC Ensembl
chr16:10627930..10645656hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3817727
hg1917727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380472
Samples
Known GenesEMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939478
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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