A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939186



Internal ID22714575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122261799..122275408hg38UCSC Ensembl
chr12:122746346..122759955hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3813610
hg1913610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351564
Samples
Known GenesCLIP1, VPS33A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939186
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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