A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940103



Internal ID22715507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49281573..49281779hg38UCSC Ensembl
chr16:49315484..49315690hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388946
Samples
Known GenesCBLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940103
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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