A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5832229



Internal ID22607164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228142404..228207489hg38UCSC Ensembl
chr2:229007120..229072205hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3865086
hg1965086
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17482745
Samples
Known GenesSPHKAP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5832229
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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