A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544238



Internal ID15163484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32402912..32449145hg38UCSC Ensembl
Innerchr12:32555846..32602079hg19UCSC Ensembl
Innerchr12:32447113..32493346hg18UCSC Ensembl
Innerchr12:32447113..32493346hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3846234
hg1946234
hg1846234
hg1746234
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469347
Supporting Variants
SamplesHGDP01200
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)nssv544238
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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