A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438312



Internal ID15388122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10501309..10555734hg38UCSC Ensembl
Innerchr21:10956723..11011148hg19UCSC Ensembl
Innerchr21:9978594..10033019hg18UCSC Ensembl
Innerchr21:9979029..10033456hg16UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3854426
hg1954426
hg1854426
hg1654428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470786, nssv470788, nssv470781, nssv470784, nssv470777, nssv470778, nssv470783, nssv470787, nssv470779, nssv470780, nssv470782, nssv470776
SamplesNA19092, NA12248, NA07357, NA10835, NA19172, NA19142, NA12249, NA06985, NA19094, NA19140, NA19173, NA18562
Known GenesTPTE
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.
Null genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nsv438312
Frequency
Sample Size269
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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