A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215114



Internal ID20782154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140841301..140899500hg38UCSC Ensembl
chr5:140220886..140279085hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3858200
hg1958200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6397369
Supporting Variants
Samples
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215114
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00012


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