A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438041



Internal ID15387852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14779255..15524673hg38UCSC Ensembl
Innerchr8:14636764..15382182hg19UCSC Ensembl
Innerchr8:14681135..15426553hg18UCSC Ensembl
Innerchr8:14647130..15392548hg16UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38745419
hg19745419
hg18745419
hg16745419
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv469721, nssv469717, nssv469720, nssv469723, nssv469722, nssv469719
SamplesNA10863, NA12234
Known GenesMIR383, SGCZ
MethodSNP array
AnalysisMendelian inconsistencies - for each genotype assay and population sample we defined the Mendel failure pattern of that assay as the binary vector (length 60) of Mendel consistency status across the 60 parent-offspring pair.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nsv438041
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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