A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469378



Internal ID15182757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52009326..52047766hg38UCSC Ensembl
Innerchr12:52403110..52441550hg19UCSC Ensembl
Innerchr12:50689377..50727817hg18UCSC Ensembl
Innerchr12:50689377..50727817hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3838441
hg1938441
hg1838441
hg1738441
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544263
SamplesHGDP00857
Known GenesGRASP, NR4A1
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)nsv469378
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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