A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533283



Internal ID15157185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132540903..132584760hg38UCSC Ensembl
Innerchr12:133117489..133161346hg19UCSC Ensembl
Innerchr12:131627562..131671419hg18UCSC Ensembl
Innerchr12:131727839..131771696hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3843858
hg1943858
hg1843858
hg1743858
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455807
Supporting Variants
Samples1780862444_A
Known GenesFBRSL1, MIR6763
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)nssv533283
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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