A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455714



Internal ID15169093
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533216
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)nsv455714
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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