A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467488



Internal ID15527553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:131737112..131797133hg38UCSC Ensembl
Innerchr10:133569448..133629469hg19UCSC Ensembl
Innerchr10:133419438..133479459hg18UCSC Ensembl
Innerchr10:133419438..133479459hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3860022
hg1960022
hg1860022
hg1760022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542770
SamplesHGDP00796
Known GenesFLJ46300
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)nsv467488
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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