A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889435



Internal ID22664452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197591080..197591199hg38UCSC Ensembl
chr2:198455804..198455923hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389981
Samples
Known GenesRFTN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889435
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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