A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438081



Internal ID15041312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10646034..10657540hg38UCSC Ensembl
Innerchr1:10706091..10717597hg19UCSC Ensembl
Innerchr1:10628678..10640184hg18UCSC Ensembl
Innerchr1:10415637..10427143hg16UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3811507
hg1911507
hg1811507
hg1611507
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv468407, nssv468296
SamplesNA12146, NA10847
Known GenesCASZ1
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)nsv438081
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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