A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5854717



Internal ID22629652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27651253..27663656hg38UCSC Ensembl
chr12:27804186..27816589hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3812404
hg1912404
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17468580
Samples
Known GenesPPFIBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5854717
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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