A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889686



Internal ID22664706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210450555..210450630hg38UCSC Ensembl
chr2:211315279..211315354hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401892
Samples
Known GenesLANCL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889686
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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