A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5962n223



Internal ID22808930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140778501..140887800hg38UCSC Ensembl
chr5:140158086..140267385hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38109300
hg19109300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6399138, nsv6405773
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)dgv5962n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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