A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469472



Internal ID15529537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74258017..74296512hg38UCSC Ensembl
Innerchr12:74651797..74690292hg19UCSC Ensembl
Innerchr12:72938064..72976559hg18UCSC Ensembl
Innerchr12:72938064..72976559hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3838496
hg1938496
hg1838496
hg1738496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544332
SamplesHGDP00106
Known GenesLOC100507377
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)nsv469472
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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