A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv469722



Internal ID15384871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14779255..15469635hg38UCSC Ensembl
Innerchr8:14636764..15327144hg19UCSC Ensembl
Innerchr8:14681135..15371515hg18UCSC Ensembl
Innerchr8:14647130..15337510hg16UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38690381
hg19690381
hg18690381
hg16690381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438041
Supporting Variants
SamplesNA12234
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)nssv469722
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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