A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112644



Internal ID21295910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141433129..141441640hg38UCSC Ensembl
Innerchr5:140812696..140821207hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg388512
hg198512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14096919
Samplessample71
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112644
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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