A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469467



Internal ID15529532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:73291546..73344035hg38UCSC Ensembl
Innerchr12:73685326..73737815hg19UCSC Ensembl
Innerchr12:71971593..72024082hg18UCSC Ensembl
Innerchr12:71971593..72024082hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3852490
hg1952490
hg1852490
hg1752490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544328
SamplesHGDP00157
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)nsv469467
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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