A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519627



Internal ID15100234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141392860..141427689hg38UCSC Ensembl
Innerchr5:140772427..140807256hg19UCSC Ensembl
Innerchr5:140752611..140787440hg18UCSC Ensembl
Innerchr5:140752611..140787440hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3834830
hg1934830
hg1834830
hg1734830
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696959
Samples
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGB8P
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519627
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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