A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543983



Internal ID15162380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:515781..674318hg38UCSC Ensembl
Innerchr12:624947..783484hg19UCSC Ensembl
Innerchr12:495208..653745hg18UCSC Ensembl
Innerchr12:495208..653745hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38158538
hg19158538
hg18158538
hg17158538
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468951
Supporting Variants
SamplesHGDP00937
Known GenesB4GALNT3, NINJ2
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)nssv543983
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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