A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928210



Internal ID22703446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102916428..102927241hg38UCSC Ensembl
chr12:103310206..103321019hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3810814
hg1910814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362214
Samples
Known GenesPAH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928210
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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