A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903035



Internal ID22678199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201130144..201133025hg38UCSC Ensembl
chr2:201994867..201997748hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382882
hg192882
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392886
Samples
Known GenesCFLAR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903035
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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