A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533221



Internal ID15502968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:115209706..115234477hg38UCSC Ensembl
Innerchr12:115647511..115672282hg19UCSC Ensembl
Innerchr12:114131894..114156665hg18UCSC Ensembl
Innerchr12:114110231..114135002hg17UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3824772
hg1924772
hg1824772
hg1724772
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455723
Supporting Variants
Samples1780862015_A
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)nssv533221
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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