A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518799



Internal ID15099406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141410366..141416532hg38UCSC Ensembl
Innerchr5:140789933..140796099hg19UCSC Ensembl
Innerchr5:140770117..140776283hg18UCSC Ensembl
Innerchr5:140770117..140776283hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg386167
hg196167
hg186167
hg176167
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694275
Samples
Known GenesPCDHGA1, PCDHGA10, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518799
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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