A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5848266



Internal ID22623201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32733686..32736142hg38UCSC Ensembl
chr12:32886620..32889076hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382457
hg192457
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17455856
Samples
Known GenesDNM1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5848266
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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