A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5864781



Internal ID22639716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49460867..49465424hg38UCSC Ensembl
chr12:49854650..49859207hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg384558
hg194558
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17464728
Samples
Known GenesSPATS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5864781
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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