A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5914736



Internal ID22689953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14921891..14942586hg38UCSC Ensembl
chr12:15074825..15095520hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3820696
hg1920696
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358668
Samples
Known GenesARHGDIB, ERP27
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5914736
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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