A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5858989



Internal ID22633924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54328874..54333073hg38UCSC Ensembl
chr12:54722658..54726857hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384200
hg194200
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv415n209
Supporting Variantsnssv17466331
Samples
Known GenesCOPZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5858989
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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