A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544117



Internal ID15502203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19316144..19425173hg38UCSC Ensembl
Innerchr12:19469078..19578107hg19UCSC Ensembl
Innerchr12:19360345..19469374hg18UCSC Ensembl
Innerchr12:19360345..19469374hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38109030
hg19109030
hg18109030
hg17109030
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469143
Supporting Variants
Samples1780854219_A
Known GenesPLEKHA5
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)nssv544117
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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