A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458026



Internal ID15171405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10487446..10515297hg38UCSC Ensembl
Innerchr18:10487443..10515294hg19UCSC Ensembl
Innerchr18:10477443..10505294hg18UCSC Ensembl
Innerchr18:10477443..10505294hg17UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3827852
hg1927852
hg1827852
hg1727852
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535090
SamplesHGDP01372
Known GenesAPCDD1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv458026
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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