A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944299



Internal ID22719762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30072078..30074242hg38UCSC Ensembl
chr16:30083399..30085563hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382165
hg192165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17385683
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944299
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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