A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469131



Internal ID15529196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19277698..19387160hg38UCSC Ensembl
Innerchr12:19430632..19540094hg19UCSC Ensembl
Innerchr12:19321899..19431361hg18UCSC Ensembl
Innerchr12:19321899..19431361hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38109463
hg19109463
hg18109463
hg17109463
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544109
Samples1780862015_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)nsv469131
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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