A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437881



Internal ID15388231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130414007..130414776hg38UCSC Ensembl
Innerchr3:130132851..130133620hg19UCSC Ensembl
Innerchr3:131615541..131616310hg18UCSC Ensembl
Innerchr3:131453760..131454529hg16UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38770
hg19770
hg18770
hg16770
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv471382, nssv471383
SamplesNA10863, NA12234
Known GenesCOL6A5
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)nsv437881
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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