A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001942



Internal ID20568982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49298101..49299923hg38UCSC Ensembl
chr12:49691884..49693706hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381823
hg191823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460566
Supporting Variants
Samples
Known GenesPRPH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001942
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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