A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5833131



Internal ID22608066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240872481..240905899hg38UCSC Ensembl
chr2:241811898..241845316hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3833419
hg1933419
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17483446
Samples
Known GenesAGXT, C2orf54
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5833131
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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