A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193549



Internal ID20760589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49291601..49297400hg38UCSC Ensembl
chr12:49685384..49691183hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg385800
hg195800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6463374
Supporting Variants
Samples
Known GenesPRPH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193549
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0022


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