A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533216



Internal ID15166163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111304418..111350598hg38UCSC Ensembl
Innerchr12:111742222..111788402hg19UCSC Ensembl
Innerchr12:110226605..110272785hg18UCSC Ensembl
Innerchr12:110204942..110251122hg17UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3846181
hg1946181
hg1846181
hg1746181
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455714
Supporting Variants
SamplesNINDS_70
Known GenesCUX2
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)nssv533216
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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