A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438278



Internal ID15388088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31453177..31454341hg38UCSC Ensembl
Innerchr18:29033140..29034304hg19UCSC Ensembl
Innerchr18:27287138..27288302hg18UCSC Ensembl
Innerchr18:27285127..27286291hg16UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381165
hg191165
hg181165
hg161165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470692, nssv470694, nssv470693, nssv470691
SamplesNA10855, NA11832
Known GenesDSG3
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)nsv438278
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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