A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455818



Internal ID15515883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:133127915..133202210hg38UCSC Ensembl
Innerchr12:133704501..133778796hg19UCSC Ensembl
Innerchr12:132214574..132288869hg18UCSC Ensembl
Innerchr12:132314851..132389146hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3874296
hg1974296
hg1874296
hg1774296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533294
SamplesHGDP00608
Known GenesZNF10, ZNF268, ZNF891
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)nsv455818
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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