A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543978



Internal ID15512888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84652..169210hg38UCSC Ensembl
Innerchr12:193818..278376hg19UCSC Ensembl
Innerchr12:64079..148637hg18UCSC Ensembl
Innerchr12:64079..148637hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3884559
hg1984559
hg1884559
hg1784559
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468943
Supporting Variants
SamplesNINDS_73
Known GenesIQSEC3, LOC574538
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)nssv543978
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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