A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5853654



Internal ID22628589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101198208..101200807hg38UCSC Ensembl
chr12:101591986..101594585hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17451217
Samples
Known GenesSLC5A8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5853654
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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