A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5856117



Internal ID22631052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9418551..9421162hg38UCSC Ensembl
chr12:9571147..9573758hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382612
hg192612
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17467427, nssv17461572
Samples
Known GenesDDX12P
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5856117
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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