A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6405773



Internal ID21063326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140784701..140885100hg38UCSC Ensembl
chr5:140164286..140264685hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38100400
hg19100400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5962n223
Supporting Variantsnssv18215102
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)nsv6405773
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer