A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599922



Internal ID16040645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141341879..141416532hg38UCSC Ensembl
Innerchr5:140721446..140796099hg19UCSC Ensembl
Innerchr5:140701630..140776283hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3874654
hg1974654
hg1874654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042426
Samples
Known GenesPCDHGA1, PCDHGA10, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599922
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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