A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463984



Internal ID15524049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152557356..152618666hg38UCSC Ensembl
Innerchr1:152529832..152591142hg19UCSC Ensembl
Innerchr1:150796456..150857766hg18UCSC Ensembl
Innerchr1:149342905..149404215hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3861311
hg1961311
hg1861311
hg1761311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv39n27
Supporting Variantsnssv539994
SamplesHGDP00868
Known GenesLCE3B, LCE3C, LCE3D, LCE3E
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)nsv463984
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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