A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469474



Internal ID15529539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74456903..74494320hg38UCSC Ensembl
Innerchr12:74850683..74888100hg19UCSC Ensembl
Innerchr12:73136950..73174367hg18UCSC Ensembl
Innerchr12:73136950..73174367hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3837418
hg1937418
hg1837418
hg1737418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544334
Samples1780862459_A
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)nsv469474
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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