A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544156



Internal ID15158569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31057180..31253973hg38UCSC Ensembl
Innerchr12:31210114..31406907hg19UCSC Ensembl
Innerchr12:31101381..31298174hg18UCSC Ensembl
Innerchr12:31101381..31298174hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38196794
hg19196794
hg18196794
hg17196794
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469196
Supporting Variants
SamplesHGDP00088
Known GenesDDX11, DDX11-AS1
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)nssv544156
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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