A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533294



Internal ID15507107
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv455818
Supporting Variants
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)nssv533294
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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