A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438173



Internal ID15387984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46306785..46325790hg38UCSC Ensembl
Innerchr10:47678021..47697026hg19UCSC Ensembl
Innerchr10:47148027..47167032hg18UCSC Ensembl
Innerchr10:46993011..47012016hg16UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3819006
hg1919006
hg1819006
hg1619006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470289, nssv470290
SamplesNA10854, NA11840
Known GenesANTXRL
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)nsv438173
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