A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438091



Internal ID15041322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:9801153..9804313hg38UCSC Ensembl
Innerchr9:9801153..9804313hg19UCSC Ensembl
Innerchr9:9791153..9794313hg18UCSC Ensembl
Innerchr9:9791153..9794313hg16UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg383161
hg193161
hg183161
hg163161
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470061, nssv470064, nssv470062, nssv470065
SamplesNA10854, NA11840
Known GenesPTPRD
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)nsv438091
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