A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213358



Internal ID20780398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141050901..141250300hg38UCSC Ensembl
chr5:140430486..140629868hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38199400
hg19199383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408486
Supporting Variants
Samples
Known GenesLOC101926905, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB17, PCDHB18, PCDHB19P, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213358
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.22419


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