A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024594



Internal ID18767126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141167591..141243953hg38UCSC Ensembl
Innerchr5:140547172..140623521hg19UCSC Ensembl
Innerchr5:140527356..140603705hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3876363
hg1976350
hg1876350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648147
Samples
Known GenesPCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB16, PCDHB18, PCDHB19P, PCDHB7, PCDHB8, PCDHB9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024594
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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