A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213207



Internal ID20780247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141393292..141403513hg38UCSC Ensembl
chr5:140772859..140783080hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3810222
hg1910222
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6399373
Supporting Variants
Samples
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213207
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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