A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944154



Internal ID22719614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49281704..49297678hg38UCSC Ensembl
chr12:49675487..49691461hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3815975
hg1915975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350392
Samples
Known GenesPRPH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944154
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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