A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889862



Internal ID22664883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201258149..201258264hg38UCSC Ensembl
chr2:202122872..202122987hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398884
Samples
Known GenesCASP8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889862
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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