A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6407676



Internal ID21065229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140842901..140891400hg38UCSC Ensembl
chr5:140222486..140270985hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3848500
hg1948500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5967n223
Supporting Variantsnssv18215117
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)nsv6407676
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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