A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469129



Internal ID15529194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18935697..19020573hg38UCSC Ensembl
Innerchr12:19088631..19173507hg19UCSC Ensembl
Innerchr12:18979898..19064774hg18UCSC Ensembl
Innerchr12:18979898..19064774hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3884877
hg1984877
hg1884877
hg1784877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544108
SamplesHGDP00011
Known Genes
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)nsv469129
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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