A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469367



Internal ID15529432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:44969762..45006831hg38UCSC Ensembl
Innerchr12:45363545..45400614hg19UCSC Ensembl
Innerchr12:43649812..43686881hg18UCSC Ensembl
Innerchr12:43649812..43686881hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3837070
hg1937070
hg1837070
hg1737070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544255
SamplesNINDS_219
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)nsv469367
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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