A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599923



Internal ID16040646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141482234..141513076hg38UCSC Ensembl
Innerchr5:140861801..140892643hg19UCSC Ensembl
Innerchr5:140841985..140872827hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3830843
hg1930843
hg1830843
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153597
Samples1780862419_A
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599923
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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