A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544096



Internal ID15506464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11422636..11558756hg38UCSC Ensembl
Innerchr12:11575570..11711690hg19UCSC Ensembl
Innerchr12:11466837..11602957hg18UCSC Ensembl
Innerchr12:11466837..11602957hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38136121
hg19136121
hg18136121
hg17136121
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469112
Supporting Variants
SamplesHGDP00511
Known GenesLOC338817
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)nssv544096
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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