A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469346



Internal ID15182725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32378286..32434531hg38UCSC Ensembl
Innerchr12:32531220..32587465hg19UCSC Ensembl
Innerchr12:32422487..32478732hg18UCSC Ensembl
Innerchr12:32422487..32478732hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3856246
hg1956246
hg1856246
hg1756246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544237
SamplesHGDP00017
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)nsv469346
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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