A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17483446



Internal ID22541353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240872481..240905899hg38UCSC Ensembl
chr2:241811898..241845316hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3833419
hg1933419
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833131
Supporting Variants
Samples
Known GenesAGXT, C2orf54
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17483446
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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