A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438198



Internal ID15041429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27488540..27489609hg38UCSC Ensembl
Innerchr12:27641473..27642542hg19UCSC Ensembl
Innerchr12:27532740..27533809hg18UCSC Ensembl
Innerchr12:27532740..27533809hg16UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381070
hg191070
hg181070
hg161070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470392, nssv470393
SamplesNA19171, NA19173
Known GenesSMCO2
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)nsv438198
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer