A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6397369



Internal ID21054922
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 StatusM
Merged Variantsdgv5967n223
Supporting Variantsnssv18215114
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)nsv6397369
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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