A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460813



Internal ID15520878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:106961072..107003955hg38UCSC Ensembl
Innerchr3:106679919..106722802hg19UCSC Ensembl
Innerchr3:108162609..108205492hg18UCSC Ensembl
Innerchr3:108162609..108205492hg17UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg3842884
hg1942884
hg1842884
hg1742884
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537317
SamplesHGDP00610
Known Genes
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)nsv460813
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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