A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466282



Internal ID15526347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:18920359..18960395hg38UCSC Ensembl
Innerchr9:18920357..18960393hg19UCSC Ensembl
Innerchr9:18910357..18950393hg18UCSC Ensembl
Innerchr9:18910357..18950393hg17UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg3840037
hg1940037
hg1840037
hg1740037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541869
SamplesHGDP01414
Known GenesFAM154A
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)nsv466282
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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