A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6399373



Internal ID21056926
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 StatusM
Merged Variants
Supporting Variantsnssv18213207
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)nsv6399373
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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